{
  "url": "https://dantelabs.com/no/genes/cpt1a",
  "gene": {
    "slug": "cpt1a",
    "symbol": "CPT1A",
    "name": "carnitine palmitoyltransferase 1A",
    "hgnc": "HGNC:2328",
    "summary": null,
    "location": "11q13.3",
    "locusType": "gene with protein product",
    "aliases": [
      "CPT1-L",
      "L-CPT1"
    ],
    "previousSymbols": [
      "CPT1"
    ],
    "ensemblId": "ENSG00000110090",
    "entrezId": 1374,
    "omim": [
      "600528"
    ],
    "uniprot": [
      "P50416"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "11",
      "start": 68754883,
      "end": 68841916,
      "strand": "-",
      "ensemblTranscript": "ENST00000265641.10",
      "refseqTranscript": "NM_001876.4",
      "ensemblProtein": "ENSP00000265641.4",
      "refseqProtein": "NP_001867.2",
      "exons": [
        {
          "start": 68754883,
          "end": 68757730
        },
        {
          "start": 68759569,
          "end": 68759661
        },
        {
          "start": 68760225,
          "end": 68760338
        },
        {
          "start": 68761535,
          "end": 68761687
        },
        {
          "start": 68762627,
          "end": 68762761
        },
        {
          "start": 68773265,
          "end": 68773429
        },
        {
          "start": 68775316,
          "end": 68775432
        },
        {
          "start": 68780640,
          "end": 68780745
        },
        {
          "start": 68781771,
          "end": 68781959
        },
        {
          "start": 68784815,
          "end": 68785010
        },
        {
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          "end": 68793402
        },
        {
          "start": 68794804,
          "end": 68794911
        },
        {
          "start": 68796856,
          "end": 68796933
        },
        {
          "start": 68799218,
          "end": 68799355
        },
        {
          "start": 68804000,
          "end": 68804101
        },
        {
          "start": 68807467,
          "end": 68807638
        },
        {
          "start": 68812437,
          "end": 68812576
        },
        {
          "start": 68815334,
          "end": 68815487
        },
        {
          "start": 68841775,
          "end": 68841916
        }
      ],
      "cds": {
        "start": 68757644,
        "end": 68815474
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "11",
      "start": 68522088,
      "end": 68611878,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 68298400,
      "end": 69298399,
      "genes": [
        {
          "symbol": "LRP5",
          "ensemblId": "ENSG00000162337",
          "biotype": "protein_coding",
          "start": 68312430,
          "end": 68449275,
          "strand": "+",
          "slug": "lrp5"
        },
        {
          "symbol": "PPP6R3",
          "ensemblId": "ENSG00000110075",
          "biotype": "protein_coding",
          "start": 68460475,
          "end": 68615343,
          "strand": "+",
          "slug": "ppp6r3"
        },
        {
          "symbol": "GAL",
          "ensemblId": "ENSG00000069482",
          "biotype": "protein_coding",
          "start": 68683020,
          "end": 68691205,
          "strand": "+",
          "slug": "gal"
        },
        {
          "symbol": "TESMIN",
          "ensemblId": "ENSG00000132749",
          "biotype": "protein_coding",
          "start": 68705313,
          "end": 68751569,
          "strand": "-",
          "slug": "tesmin"
        },
        {
          "symbol": "MRPL21",
          "ensemblId": "ENSG00000197345",
          "biotype": "protein_coding",
          "start": 68862382,
          "end": 68903841,
          "strand": "-",
          "slug": "mrpl21"
        },
        {
          "symbol": "IGHMBP2",
          "ensemblId": "ENSG00000132740",
          "biotype": "protein_coding",
          "start": 68903863,
          "end": 68940602,
          "strand": "+",
          "slug": "ighmbp2"
        },
        {
          "symbol": "MRGPRD",
          "ensemblId": "ENSG00000172938",
          "biotype": "protein_coding",
          "start": 68980021,
          "end": 68980986,
          "strand": "-",
          "slug": "mrgprd"
        },
        {
          "symbol": "MRGPRF",
          "ensemblId": "ENSG00000172935",
          "biotype": "protein_coding",
          "start": 69004376,
          "end": 69014407,
          "strand": "-",
          "slug": "mrgprf"
        },
        {
          "symbol": "TPCN2",
          "ensemblId": "ENSG00000162341",
          "biotype": "protein_coding",
          "start": 69048844,
          "end": 69136317,
          "strand": "+",
          "slug": "tpcn2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000287725",
          "biotype": "protein_coding",
          "start": 69072915,
          "end": 69162440,
          "strand": "+"
        },
        {
          "symbol": "SMIM38",
          "ensemblId": "ENSG00000284713",
          "biotype": "protein_coding",
          "start": 69155478,
          "end": 69162440,
          "strand": "+",
          "slug": "smim38"
        },
        {
          "symbol": "MYEOV",
          "ensemblId": "ENSG00000172927",
          "biotype": "protein_coding",
          "start": 69294114,
          "end": 69341682,
          "strand": "+",
          "slug": "myeov"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders",
        "name": "Fettsyreoksidasjons- og karnitinsyklusforstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0009705",
            "name": "Carnitine Palmitoyltransferase 1A-mangel",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av varianter i CPT1A, som kan gi episoder med lavt blodsukker og leverdysfunksjon hos små barn, vanligvis utløst av faste eller sykdom.",
            "management": "Når du vet om tilstanden, kan du unngå faste og gi glukose raskt ved sykdom.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "Natera"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "renal-tubular-acidosis",
        "name": "Accumulation of acid in body due to kidney problem",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-tubular-acidosis"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "elevated-circulating-alanine-aminotransferase-concentration",
        "name": "Elevated circulating alanine aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration"
      },
      {
        "slug": "elevated-circulating-aspartate-aminotransferase-concentration",
        "name": "Elevated circulating aspartate aminotransferase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "hepatic-steatosis",
        "name": "Fatty infiltration of liver",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/hepatic-steatosis"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "elevated-circulating-hepatic-transaminase-concentration",
        "name": "High liver enzymes",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration"
      },
      {
        "slug": "hypoketotic-hypoglycemia",
        "name": "Hypoketotic hypoglycemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoketotic-hypoglycemia"
      },
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "systems": [],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hepatic-failure",
        "name": "Liver failure",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatic-failure"
      },
      {
        "slug": "loss-of-consciousness",
        "name": "Loss of consciousness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/loss-of-consciousness"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "recurrent-encephalopathy",
        "name": "Recurrent encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-encephalopathy"
      },
      {
        "slug": "sudden-cardiac-death",
        "name": "Sudden cardiac death",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sudden-cardiac-death"
      },
      {
        "slug": "transient-hyperlipidemia",
        "name": "Transient hyperlipidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/transient-hyperlipidemia"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}