{
  "url": "https://dantelabs.com/de/genes/bckdhb",
  "gene": {
    "slug": "bckdhb",
    "symbol": "BCKDHB",
    "name": "branched chain keto acid dehydrogenase E1 subunit beta",
    "hgnc": "HGNC:987",
    "summary": null,
    "location": "6q14.1",
    "locusType": "gene with protein product",
    "aliases": [
      "OVD1B"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000083123",
    "entrezId": 594,
    "omim": [
      "248611"
    ],
    "uniprot": [
      "P21953"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 80106671,
      "end": 80346270,
      "strand": "+",
      "ensemblTranscript": "ENST00000320393.9",
      "refseqTranscript": "NM_183050.4",
      "ensemblProtein": "ENSP00000318351.5",
      "refseqProtein": "NP_898871.1",
      "exons": [
        {
          "start": 80106671,
          "end": 80106889
        },
        {
          "start": 80127547,
          "end": 80127624
        },
        {
          "start": 80129161,
          "end": 80129229
        },
        {
          "start": 80167678,
          "end": 80167811
        },
        {
          "start": 80168875,
          "end": 80169030
        },
        {
          "start": 80171282,
          "end": 80171390
        },
        {
          "start": 80200934,
          "end": 80201031
        },
        {
          "start": 80203102,
          "end": 80203212
        },
        {
          "start": 80273135,
          "end": 80273221
        },
        {
          "start": 80343664,
          "end": 80346270
        }
      ],
      "cds": {
        "start": 80106694,
        "end": 80343804
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 80816364,
      "end": 81055987,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 79726471,
      "end": 80726470,
      "genes": [
        {
          "symbol": "ELOVL4",
          "ensemblId": "ENSG00000118402",
          "biotype": "protein_coding",
          "start": 79913808,
          "end": 79947701,
          "strand": "-",
          "slug": "elovl4"
        },
        {
          "symbol": "TTK",
          "ensemblId": "ENSG00000112742",
          "biotype": "protein_coding",
          "start": 80003887,
          "end": 80043580,
          "strand": "+",
          "slug": "ttk"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "maple-syrup-urine-disease",
        "name": "Ahornsirupkrankheit",
        "diseases": [
          {
            "mondoId": "MONDO:0009563",
            "name": "Ahornsirupkrankheit",
            "genes": 4,
            "inheritance": "autosomal-recessive",
            "description": "Verursacht durch Varianten in BCKDHA, BCKDHB oder DBT, die zu süßlich riechendem Urin, Trinkschwäche und unbehandelt zu Hirnschwellungen und Stoffwechselkrisen führen können.",
            "management": "Wenn Sie davon wissen, können eine eiweißangepasste Ernährung, eine engmaschige Kontrolle der Leucinspiegel und eine Notfallversorgung bei Erkrankungen ermöglicht werden, was Hirnschäden verhindern kann.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 9
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/de/conditions/maple-syrup-urine-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "hyperisoleucinemia",
        "name": "High blood isoleucine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperisoleucinemia"
      },
      {
        "slug": "hyperleucinemia",
        "name": "High blood leucine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperleucinemia"
      },
      {
        "slug": "hypervalinemia",
        "name": "High blood valine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypervalinemia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/opisthotonus"
      }
    ],
    "related": [
      {
        "slug": "bckdha",
        "symbol": "BCKDHA",
        "name": "branched chain keto acid dehydrogenase E1 subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/bckdha"
      },
      {
        "slug": "dbt",
        "symbol": "DBT",
        "name": "dihydrolipoamide branched chain transacylase E2",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dbt"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "name": "dihydrolipoamide dehydrogenase",
        "shared": 1,
        "url": "https://dantelabs.com/de/genes/dld"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}