{
  "url": "https://dantelabs.com/sv/genes/mrps22",
  "gene": {
    "slug": "mrps22",
    "symbol": "MRPS22",
    "name": "mitochondrial ribosomal protein S22",
    "hgnc": "HGNC:14508",
    "summary": null,
    "location": "3q23",
    "locusType": "gene with protein product",
    "aliases": [
      "MRP-S22",
      "GK002",
      "C3orf5",
      "GIBT",
      "mS22"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000175110",
    "entrezId": 56945,
    "omim": [
      "605810"
    ],
    "uniprot": [
      "P82650"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 139344020,
      "end": 139357129,
      "strand": "+",
      "ensemblTranscript": "ENST00000680020.1",
      "refseqTranscript": "NM_020191.4",
      "ensemblProtein": "ENSP00000505414.1",
      "refseqProtein": "NP_064576.1",
      "exons": [
        {
          "start": 139344020,
          "end": 139344198
        },
        {
          "start": 139346878,
          "end": 139347044
        },
        {
          "start": 139348160,
          "end": 139348324
        },
        {
          "start": 139350179,
          "end": 139350322
        },
        {
          "start": 139350977,
          "end": 139351060
        },
        {
          "start": 139352647,
          "end": 139352792
        },
        {
          "start": 139355682,
          "end": 139355790
        },
        {
          "start": 139356919,
          "end": 139357129
        }
      ],
      "cds": {
        "start": 139344027,
        "end": 139357014
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
      "start": 138724648,
      "end": 139076065,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 138850575,
      "end": 139850574,
      "genes": [
        {
          "symbol": "FOXL2",
          "ensemblId": "ENSG00000183770",
          "biotype": "protein_coding",
          "start": 138944224,
          "end": 138947137,
          "strand": "-",
          "slug": "foxl2"
        },
        {
          "symbol": "FOXL2NB",
          "ensemblId": "ENSG00000206262",
          "biotype": "protein_coding",
          "start": 138947177,
          "end": 138953990,
          "strand": "+",
          "slug": "foxl2nb"
        },
        {
          "symbol": "PRR23A",
          "ensemblId": "ENSG00000206260",
          "biotype": "protein_coding",
          "start": 139003962,
          "end": 139006268,
          "strand": "-",
          "slug": "prr23a"
        },
        {
          "symbol": "PRR23B",
          "ensemblId": "ENSG00000184814",
          "biotype": "protein_coding",
          "start": 139019031,
          "end": 139020926,
          "strand": "-",
          "slug": "prr23b"
        },
        {
          "symbol": "PRR23C",
          "ensemblId": "ENSG00000233701",
          "biotype": "protein_coding",
          "start": 139042102,
          "end": 139044892,
          "strand": "-",
          "slug": "prr23c"
        },
        {
          "symbol": "COPB2",
          "ensemblId": "ENSG00000184432",
          "biotype": "protein_coding",
          "start": 139353942,
          "end": 139389736,
          "strand": "-",
          "slug": "copb2"
        },
        {
          "symbol": "RBP2",
          "ensemblId": "ENSG00000114113",
          "biotype": "protein_coding",
          "start": 139452884,
          "end": 139480767,
          "strand": "-",
          "slug": "rbp2"
        },
        {
          "symbol": "RBP1",
          "ensemblId": "ENSG00000114115",
          "biotype": "protein_coding",
          "start": 139517434,
          "end": 139540396,
          "strand": "-",
          "slug": "rbp1"
        },
        {
          "symbol": "NMNAT3",
          "ensemblId": "ENSG00000163864",
          "biotype": "protein_coding",
          "start": 139558696,
          "end": 139678017,
          "strand": "-",
          "slug": "nmnat3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "female-infertility",
        "name": "Kvinnlig infertilitet",
        "diseases": [
          {
            "mondoId": "MONDO:0021124",
            "name": "Kvinnlig infertilitet",
            "genes": 37,
            "inheritance": null,
            "description": "Nedsatt eller frånvarande förmåga hos en kvinna att bli gravid.",
            "management": null,
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/female-infertility"
      },
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primär mitokondriell sjukdom",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinerad brist på oxidativ fosforylering",
            "genes": 48,
            "inheritance": null,
            "description": "Sjukdomar, oftast orsakade av kärngener som deltar i produktionen av mitokondrieproteiner. De minskar flera andningskedjekomplex samtidigt och ger ofta allvarlig sjukdom i flera organsystem under barndomen.",
            "management": "Kunskapen kan avsluta en diagnostisk sökning och vägleda uppföljning och stödjande vård.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-renal-tubule-morphology",
        "name": "Abnormal renal tubule morphology",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-renal-tubule-morphology"
      },
      {
        "slug": "abnormality-of-secondary-sexual-hair",
        "name": "Abnormality of secondary sexual hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-secondary-sexual-hair"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-breasts",
        "name": "Absent/small breasts",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-breasts"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-uterus",
        "name": "Absent/small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uterus"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "ambiguous-genitalia",
        "name": "Ambiguous external genitalia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ambiguous-genitalia"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-atp-synthase-complex",
        "name": "Decreased activity of mitochondrial ATP synthase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-atp-synthase-complex"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-i",
        "name": "Decreased activity of mitochondrial complex I",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-i"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iii",
        "name": "Decreased activity of mitochondrial complex III",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iii"
      },
      {
        "slug": "decreased-activity-of-mitochondrial-complex-iv",
        "name": "Decreased activity of mitochondrial complex IV",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-iv"
      },
      {
        "slug": "decreased-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "slug": "decreased-serum-estradiol",
        "name": "Decreased serum estradiol",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-serum-estradiol"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-myelination",
        "name": "Delayed myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-myelination"
      },
      {
        "slug": "delayed-puberty",
        "name": "Delayed puberty",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "premature-ovarian-insufficiency",
        "name": "Early menopause",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "elevated-circulating-follicle-stimulating-hormone-level",
        "name": "Elevated circulating follicle stimulating hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level"
      },
      {
        "slug": "elevated-circulating-luteinizing-hormone-level",
        "name": "Elevated circulating luteinizing hormone level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fetal-skin-edema",
        "name": "Fetal skin edema",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fetal-skin-edema"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gonadal-dysgenesis",
        "name": "Gonadal dysgenesis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gonadal-dysgenesis"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-circulating-gonadotropin-level",
        "name": "Increased circulating gonadotropin level",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "leukoencephalopathy",
        "name": "Leukoencephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/leukoencephalopathy"
      },
      {
        "slug": "arachnodactyly",
        "name": "Long slender fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/arachnodactyly"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "reduced-bone-mineral-density",
        "name": "Low solidness and mass of the bones",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-bone-mineral-density"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "osteoporosis-of-vertebrae",
        "name": "Osteoporosis of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis-of-vertebrae"
      },
      {
        "slug": "secondary-amenorrhea",
        "name": "Previous menstrual periods stop",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/secondary-amenorrhea"
      },
      {
        "slug": "primary-amenorrhea",
        "name": "Primary amenorrhea",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/primary-amenorrhea"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "redundant-neck-skin",
        "name": "Redundant neck skin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/redundant-neck-skin"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "hypoplasia-of-the-uterus",
        "name": "Small uterus",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-uterus"
      },
      {
        "slug": "sparse-pubic-hair",
        "name": "Sparse pubic hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-pubic-hair"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "streak-ovary",
        "name": "Streak ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/streak-ovary"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aifm1"
      },
      {
        "slug": "ankrd31",
        "symbol": "ANKRD31",
        "name": "ankyrin repeat domain 31",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ankrd31"
      },
      {
        "slug": "atm",
        "symbol": "ATM",
        "name": "ATM serine/threonine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atm"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/atp5po"
      },
      {
        "slug": "bmp15",
        "symbol": "BMP15",
        "name": "bone morphogenetic protein 15",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bmp15"
      },
      {
        "slug": "bnc1",
        "symbol": "BNC1",
        "name": "basonuclin zinc finger protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/bnc1"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/c2orf69"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}