{
  "url": "https://dantelabs.com/de/genes/mcat",
  "gene": {
    "slug": "mcat",
    "symbol": "MCAT",
    "name": "malonyl-CoA-acyl carrier protein transacylase",
    "hgnc": "HGNC:29622",
    "summary": null,
    "location": "22q13.2",
    "locusType": "gene with protein product",
    "aliases": [
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      "MCT",
      "fabD",
      "FASN2C",
      "NET62",
      "MCT1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000100294",
    "entrezId": 27349,
    "omim": [
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    "uniprot": [
      "Q8IVS2"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "22",
      "start": 43132209,
      "end": 43143398,
      "strand": "-",
      "ensemblTranscript": "ENST00000290429.11",
      "refseqTranscript": "NM_173467.5",
      "ensemblProtein": "ENSP00000290429.5",
      "refseqProtein": "NP_775738.3",
      "exons": [
        {
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          "end": 43133486
        },
        {
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        {
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        }
      ],
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        "end": 43143348
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "22",
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      "end": 43539400,
      "strand": "-"
    },
    "neighbourhood": {
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        {
          "symbol": "CYB5R3",
          "ensemblId": "ENSG00000100243",
          "biotype": "protein_coding",
          "start": 42615730,
          "end": 42720870,
          "strand": "-",
          "slug": "cyb5r3"
        },
        {
          "symbol": "ATP5MGL",
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          "biotype": "protein_coding",
          "start": 42639803,
          "end": 42640601,
          "strand": "-",
          "slug": "atp5mgl"
        },
        {
          "symbol": "A4GALT",
          "ensemblId": "ENSG00000128274",
          "biotype": "protein_coding",
          "start": 42691010,
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          "strand": "-",
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        },
        {
          "symbol": "ARFGAP3",
          "ensemblId": "ENSG00000242247",
          "biotype": "protein_coding",
          "start": 42796502,
          "end": 42858106,
          "strand": "-",
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        {
          "symbol": "PACSIN2",
          "ensemblId": "ENSG00000100266",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "pacsin2"
        },
        {
          "symbol": "TTLL1",
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          "end": 43089430,
          "strand": "-",
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        },
        {
          "symbol": "BIK",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "TSPO",
          "ensemblId": "ENSG00000100300",
          "biotype": "protein_coding",
          "start": 43151077,
          "end": 43163246,
          "strand": "+",
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        },
        {
          "symbol": "TTLL12",
          "ensemblId": "ENSG00000100304",
          "biotype": "protein_coding",
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          "slug": "ttll12"
        },
        {
          "symbol": "SCUBE1",
          "ensemblId": "ENSG00000159307",
          "biotype": "protein_coding",
          "start": 43197280,
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          "strand": "-",
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        },
        {
          "symbol": "MPPED1",
          "ensemblId": "ENSG00000186732",
          "biotype": "protein_coding",
          "start": 43411196,
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          "slug": "mpped1"
        },
        {
          "symbol": "EFCAB6",
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          "start": 43528744,
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          "strand": "-",
          "slug": "efcab6"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "central-scotoma",
        "name": "Blind spot located at fixation point",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/central-scotoma"
      },
      {
        "slug": "dyschromatopsia",
        "name": "Color blindness",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/dyschromatopsia"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
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          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}