{
  "url": "https://dantelabs.com/lt/genes/mrpl39",
  "gene": {
    "slug": "mrpl39",
    "symbol": "MRPL39",
    "name": "mitochondrial ribosomal protein L39",
    "hgnc": "HGNC:14027",
    "summary": null,
    "location": "21q21.3",
    "locusType": "gene with protein product",
    "aliases": [
      "RPML5",
      "MRP-L5",
      "MGC104174",
      "PRED66",
      "PRED22",
      "C21orf92",
      "L39mt",
      "MSTP003",
      "MGC3400",
      "FLJ20451",
      "mL39"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000154719",
    "entrezId": 54148,
    "omim": [
      "611845"
    ],
    "uniprot": [
      "Q9NYK5"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "21",
      "start": 25585656,
      "end": 25607481,
      "strand": "-",
      "ensemblTranscript": "ENST00000352957.9",
      "refseqTranscript": "NM_017446.4",
      "ensemblProtein": "ENSP00000284967.7",
      "refseqProtein": "NP_059142.3",
      "exons": [
        {
          "start": 25585656,
          "end": 25585754
        },
        {
          "start": 25588835,
          "end": 25588882
        },
        {
          "start": 25592812,
          "end": 25592965
        },
        {
          "start": 25593893,
          "end": 25593958
        },
        {
          "start": 25597302,
          "end": 25597414
        },
        {
          "start": 25599799,
          "end": 25599866
        },
        {
          "start": 25601368,
          "end": 25601467
        },
        {
          "start": 25603796,
          "end": 25603935
        },
        {
          "start": 25606449,
          "end": 25606655
        },
        {
          "start": 25607403,
          "end": 25607481
        }
      ],
      "cds": {
        "start": 25585707,
        "end": 25607475
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "21",
      "start": 26957968,
      "end": 26979829,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 25096569,
      "end": 26096568,
      "genes": [
        {
          "symbol": "JAM2",
          "ensemblId": "ENSG00000154721",
          "biotype": "protein_coding",
          "start": 25639258,
          "end": 25717783,
          "strand": "+",
          "slug": "jam2"
        },
        {
          "symbol": "ATP5PF",
          "ensemblId": "ENSG00000154723",
          "biotype": "protein_coding",
          "start": 25693623,
          "end": 25735721,
          "strand": "-",
          "slug": "atp5pf"
        },
        {
          "symbol": "GABPA",
          "ensemblId": "ENSG00000154727",
          "biotype": "protein_coding",
          "start": 25734570,
          "end": 25772460,
          "strand": "+",
          "slug": "gabpa"
        },
        {
          "symbol": "APP",
          "ensemblId": "ENSG00000142192",
          "biotype": "protein_coding",
          "start": 25880535,
          "end": 26171128,
          "strand": "-",
          "slug": "app"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "primary-mitochondrial-disease",
        "name": "Primarna mitochondrinė liga",
        "diseases": [
          {
            "mondoId": "MONDO:0000732",
            "name": "Kombinuotas oksidacinio fosforilinimo nepakankamumas",
            "genes": 48,
            "inheritance": null,
            "description": "Ligos, dažniausiai sukeliamos branduolio genų, dalyvaujančių mitochondrijų baltymų gamyboje. Jos vienu metu sumažina kelis kvėpavimo grandinės kompleksus ir dažnai vaikystėje sukelia sunkią daugiasistemę ligą.",
            "management": "Žinojimas gali nutraukti diagnozės paieškas ir padėti stebėti bei teikti palaikomąją priežiūrą.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/lt/conditions/primary-mitochondrial-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-basal-ganglia-mri-signal-intensity",
        "name": "Abnormal basal ganglia MRI signal intensity",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-basal-ganglia-mri-signal-intensity"
      },
      {
        "slug": "apnea",
        "name": "Apnea",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apnea"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "cerebral-edema",
        "name": "Brain swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cerebral-edema"
      },
      {
        "slug": "congestive-heart-failure",
        "name": "Cardiac failure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/congestive-heart-failure"
      },
      {
        "slug": "cns-demyelination",
        "name": "CNS demyelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cns-demyelination"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "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-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-activity-of-the-pyruvate-dehydrogenase-complex",
        "name": "Decreased activity of the pyruvate dehydrogenase complex",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-activity-of-the-pyruvate-dehydrogenase-complex"
      },
      {
        "slug": "elevated-brain-lactate-level-by-mrs",
        "name": "Elevated brain lactate level by MRS",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-brain-lactate-level-by-mrs"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "cholelithiasis",
        "name": "Gallstones",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cholelithiasis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "ketotic-hypoglycemia",
        "name": "Ketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ketotic-hypoglycemia"
      },
      {
        "slug": "apathy",
        "name": "Lack of feeling, emotion, interest",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/apathy"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "severely-reduced-left-ventricular-ejection-fraction",
        "name": "Severely reduced left ventricular ejection fraction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severely-reduced-left-ventricular-ejection-fraction"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "aars2",
        "symbol": "AARS2",
        "name": "alanyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aars2"
      },
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/aifm1"
      },
      {
        "slug": "atp5f1a",
        "symbol": "ATP5F1A",
        "name": "ATP synthase F1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp5f1a"
      },
      {
        "slug": "atp5f1d",
        "symbol": "ATP5F1D",
        "name": "ATP synthase F1 subunit delta",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp5f1d"
      },
      {
        "slug": "atp5f1e",
        "symbol": "ATP5F1E",
        "name": "ATP synthase F1 subunit epsilon",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp5f1e"
      },
      {
        "slug": "atp5po",
        "symbol": "ATP5PO",
        "name": "ATP synthase peripheral stalk subunit OSCP",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/atp5po"
      },
      {
        "slug": "c1qbp",
        "symbol": "C1QBP",
        "name": "complement C1q binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/c1qbp"
      },
      {
        "slug": "c2orf69",
        "symbol": "C2orf69",
        "name": "chromosome 2 open reading frame 69",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/c2orf69"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/lt/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}