{
  "url": "https://dantelabs.com/it/genes/mpc1",
  "gene": {
    "slug": "mpc1",
    "symbol": "MPC1",
    "name": "mitochondrial pyruvate carrier 1",
    "hgnc": "HGNC:21606",
    "summary": null,
    "location": "6q27",
    "locusType": "gene with protein product",
    "aliases": [
      "dJ68L15.3",
      "CGI-129",
      "SLC54A1"
    ],
    "previousSymbols": [
      "BRP44L"
    ],
    "ensemblId": "ENSG00000060762",
    "entrezId": 51660,
    "omim": [
      "614738"
    ],
    "uniprot": [
      "Q9Y5U8"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 166364919,
      "end": 166382940,
      "strand": "-",
      "ensemblTranscript": "ENST00000360961.11",
      "refseqTranscript": "NM_016098.4",
      "ensemblProtein": "ENSP00000354223.6",
      "refseqProtein": "NP_057182.1",
      "exons": [
        {
          "start": 166364919,
          "end": 166365453
        },
        {
          "start": 166365974,
          "end": 166366106
        },
        {
          "start": 166366795,
          "end": 166366891
        },
        {
          "start": 166370218,
          "end": 166370221
        },
        {
          "start": 166382806,
          "end": 166382940
        }
      ],
      "cds": {
        "start": 166365429,
        "end": 166382876
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 166778407,
      "end": 166796486,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 165873930,
      "end": 166873929,
      "genes": [
        {
          "symbol": "PDE10A",
          "ensemblId": "ENSG00000112541",
          "biotype": "protein_coding",
          "start": 165327287,
          "end": 165988117,
          "strand": "-",
          "slug": "pde10a"
        },
        {
          "symbol": "TBXT",
          "ensemblId": "ENSG00000164458",
          "biotype": "protein_coding",
          "start": 166157656,
          "end": 166168815,
          "strand": "-",
          "slug": "tbxt"
        },
        {
          "symbol": "PRR18",
          "ensemblId": "ENSG00000176381",
          "biotype": "protein_coding",
          "start": 166305300,
          "end": 166308448,
          "strand": "-",
          "slug": "prr18"
        },
        {
          "symbol": "SFT2D1",
          "ensemblId": "ENSG00000198818",
          "biotype": "protein_coding",
          "start": 166319724,
          "end": 166342610,
          "strand": "-",
          "slug": "sft2d1"
        },
        {
          "symbol": "RPS6KA2",
          "ensemblId": "ENSG00000071242",
          "biotype": "protein_coding",
          "start": 166409364,
          "end": 166906451,
          "strand": "-",
          "slug": "rps6ka2"
        },
        {
          "symbol": "RAMACL",
          "ensemblId": "ENSG00000235272",
          "biotype": "protein_coding",
          "start": 166583009,
          "end": 166586678,
          "strand": "-",
          "slug": "ramacl"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000249141",
          "biotype": "protein_coding",
          "start": 166858094,
          "end": 166956124,
          "strand": "-"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency",
        "name": "Deficit della piruvato deidrogenasi e della piruvato carbossilasi",
        "diseases": [
          {
            "mondoId": "MONDO:0013877",
            "name": "Deficit del trasportatore mitocondriale del piruvato",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Causato da varianti in MPC1, che possono provocare acidosi lattica e ritardo dello sviluppo.",
            "management": "Conoscere la condizione può porre fine a una ricerca diagnostica e orientare i consigli dietetici specialistici.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/it/conditions/pyruvate-dehydrogenase-and-pyruvate-carboxylase-deficiency"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "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": "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-pyruvate-concentration",
        "name": "Increased circulating pyruvate concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "long-philtrum",
        "name": "Long philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/long-philtrum"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "organic-aciduria",
        "name": "Organic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/organic-aciduria"
      },
      {
        "slug": "peripheral-neuropathy",
        "name": "Peripheral neuropathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peripheral-neuropathy"
      },
      {
        "slug": "progressive-microcephaly",
        "name": "Progressively abnormally small cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/progressive-microcephaly"
      },
      {
        "slug": "rotary-nystagmus",
        "name": "Rotary nystagmus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rotary-nystagmus"
      },
      {
        "slug": "thin-upper-lip-vermilion",
        "name": "Thin red part of the upper lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}