{
  "url": "https://dantelabs.com/sv/genes/mipep",
  "gene": {
    "slug": "mipep",
    "symbol": "MIPEP",
    "name": "mitochondrial intermediate peptidase",
    "hgnc": "HGNC:7104",
    "summary": null,
    "location": "13q12.12",
    "locusType": "gene with protein product",
    "aliases": [
      "MIP"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000027001",
    "entrezId": 4285,
    "omim": [
      "602241"
    ],
    "uniprot": [
      "Q99797"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "13",
      "start": 23730189,
      "end": 23889400,
      "strand": "-",
      "ensemblTranscript": "ENST00000382172.4",
      "refseqTranscript": "NM_005932.4",
      "ensemblProtein": "ENSP00000371607.3",
      "refseqProtein": "NP_005923.3",
      "exons": [
        {
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          "end": 23730445
        },
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          "end": 23874909
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        {
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        {
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        {
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          "end": 23889400
        }
      ],
      "cds": {
        "start": 23730348,
        "end": 23889320
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "13",
      "start": 24304328,
      "end": 24463558,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 23309795,
      "end": 24309794,
      "genes": [
        {
          "symbol": "SGCG",
          "ensemblId": "ENSG00000102683",
          "biotype": "protein_coding",
          "start": 23160011,
          "end": 23325958,
          "strand": "+",
          "slug": "sgcg"
        },
        {
          "symbol": "SACS",
          "ensemblId": "ENSG00000151835",
          "biotype": "protein_coding",
          "start": 23288689,
          "end": 23433763,
          "strand": "-",
          "slug": "sacs"
        },
        {
          "symbol": "TNFRSF19",
          "ensemblId": "ENSG00000127863",
          "biotype": "protein_coding",
          "start": 23570194,
          "end": 23676105,
          "strand": "+",
          "slug": "tnfrsf19"
        },
        {
          "symbol": "C1QTNF9B",
          "ensemblId": "ENSG00000205863",
          "biotype": "protein_coding",
          "start": 23891098,
          "end": 23897502,
          "strand": "-",
          "slug": "c1qtnf9b"
        },
        {
          "symbol": "SPATA13",
          "ensemblId": "ENSG00000182957",
          "biotype": "protein_coding",
          "start": 23979677,
          "end": 24307074,
          "strand": "+",
          "slug": "spata13"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000273167",
          "biotype": "protein_coding",
          "start": 23979700,
          "end": 24321031,
          "strand": "+"
        },
        {
          "symbol": "C1QTNF9",
          "ensemblId": "ENSG00000240654",
          "biotype": "protein_coding",
          "start": 24307166,
          "end": 24322535,
          "strand": "+",
          "slug": "c1qtnf9"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "left-ventricular-noncompaction",
        "name": "Vänsterkammarnoncompaction",
        "diseases": [
          {
            "mondoId": "MONDO:0014976",
            "name": "MIPEP-relaterat vänsterkammarnoncompactionssyndrom",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Ett allvarligt tillstånd orsakat av förändringar i MIPEP som kombinerar vänsterkammarnoncompaction eller annan kardiomyopati med krampanfall, lågt muskeltonus, grå starr och försenad utveckling.",
            "management": null,
            "evidence": {
              "gencc": [
                "Broad Center for Mendelian Genomics",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/left-ventricular-noncompaction"
      },
      {
        "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": [
                "Broad Center for Mendelian Genomics",
                "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": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "bulbous-nose",
        "name": "Bulbous nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bulbous-nose"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "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": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "hyperalaninemia",
        "name": "Increased blood alanine",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperalaninemia"
      },
      {
        "slug": "increased-intramyocellular-lipid-droplets",
        "name": "Increased intramyocellular lipid droplets",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-intramyocellular-lipid-droplets"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "left-ventricular-noncompaction",
        "name": "Left ventricular noncompaction",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/left-ventricular-noncompaction"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "wide-mouth",
        "name": "Wide mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-mouth"
      }
    ],
    "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": "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": "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"
      },
      {
        "slug": "cars2",
        "symbol": "CARS2",
        "name": "cysteinyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/cars2"
      },
      {
        "slug": "crls1",
        "symbol": "CRLS1",
        "name": "cardiolipin synthase 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/crls1"
      },
      {
        "slug": "ears2",
        "symbol": "EARS2",
        "name": "glutamyl-tRNA synthetase 2, mitochondrial",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ears2"
      },
      {
        "slug": "elac2",
        "symbol": "ELAC2",
        "name": "elaC ribonuclease Z 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/elac2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}