{
  "url": "https://dantelabs.com/fi/genes/mief2",
  "gene": {
    "slug": "mief2",
    "symbol": "MIEF2",
    "name": "mitochondrial elongation factor 2",
    "hgnc": "HGNC:17920",
    "summary": null,
    "location": "17p11.2",
    "locusType": "gene with protein product",
    "aliases": [
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      "MiD49",
      "D3B"
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    "previousSymbols": [
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    "ensemblId": "ENSG00000177427",
    "entrezId": 125170,
    "omim": [
      "615498"
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    "uniprot": [
      "Q96C03"
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      "release": "v1.5",
      "chrom": "17",
      "start": 18260662,
      "end": 18266552,
      "strand": "+",
      "ensemblTranscript": "ENST00000323019.9",
      "refseqTranscript": "NM_139162.4",
      "ensemblProtein": "ENSP00000323591.4",
      "refseqProtein": "NP_631901.2",
      "exons": [
        {
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
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      "end": 18169866,
      "strand": "+"
    },
    "neighbourhood": {
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        {
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          "ensemblId": "ENSG00000108557",
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        {
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        {
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        {
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        {
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        {
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        {
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        {
          "symbol": "MYO15A",
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          "biotype": "protein_coding",
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        {
          "symbol": "ALKBH5",
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          "slug": "alkbh5"
        },
        {
          "symbol": "LLGL1",
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          "end": 18244876,
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        },
        {
          "symbol": "FLII",
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          "slug": "flii"
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        {
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        {
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        {
          "symbol": "SHMT1",
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        },
        {
          "symbol": "EVPLL",
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        {
          "symbol": "LGALS9C",
          "ensemblId": "ENSG00000171916",
          "biotype": "protein_coding",
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          "strand": "+",
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        },
        {
          "symbol": "TBC1D28",
          "ensemblId": "ENSG00000189375",
          "biotype": "protein_coding",
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        {
          "symbol": "FOXO3B",
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          "biotype": "protein_coding",
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        {
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        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "cytochrome-c-oxidase-negative-muscle-fibers",
        "name": "Cytochrome C oxidase-negative muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cytochrome-c-oxidase-negative-muscle-fibers"
      },
      {
        "slug": "exercise-intolerance",
        "name": "Decreased ability to exercise",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/exercise-intolerance"
      },
      {
        "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-ii",
        "name": "Decreased activity of mitochondrial complex II",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-activity-of-mitochondrial-complex-ii"
      },
      {
        "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": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "progressive-muscle-weakness",
        "name": "Progressive muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/progressive-muscle-weakness"
      },
      {
        "slug": "ragged-red-muscle-fibers",
        "name": "Ragged-red muscle fibers",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ragged-red-muscle-fibers"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}