{
  "url": "https://dantelabs.com/genes/mccc2",
  "gene": {
    "slug": "mccc2",
    "symbol": "MCCC2",
    "name": "methylcrotonyl-CoA carboxylase subunit 2",
    "hgnc": "HGNC:6937",
    "summary": null,
    "location": "5q13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "MCCB",
      "MCCCβ"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000131844",
    "entrezId": 64087,
    "omim": [
      "609014"
    ],
    "uniprot": [
      "Q9HCC0"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 71587340,
      "end": 71658706,
      "strand": "+",
      "ensemblTranscript": "ENST00000340941.11",
      "refseqTranscript": "NM_022132.5",
      "ensemblProtein": "ENSP00000343657.6",
      "refseqProtein": "NP_071415.1",
      "exons": [
        {
          "start": 71587340,
          "end": 71587554
        },
        {
          "start": 71592926,
          "end": 71592992
        },
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          "end": 71596364
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        {
          "start": 71599659,
          "end": 71599760
        },
        {
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          "end": 71602633
        },
        {
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          "end": 71604468
        },
        {
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          "end": 71626753
        },
        {
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          "end": 71632185
        },
        {
          "start": 71634943,
          "end": 71635042
        },
        {
          "start": 71635151,
          "end": 71635246
        },
        {
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        },
        {
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          "end": 71643895
        },
        {
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          "end": 71646277
        },
        {
          "start": 71649097,
          "end": 71649253
        },
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          "start": 71650069,
          "end": 71650183
        },
        {
          "start": 71652669,
          "end": 71652754
        },
        {
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          "end": 71658706
        }
      ],
      "cds": {
        "start": 71587426,
        "end": 71656860
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 70883115,
      "end": 70954531,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 71123023,
      "end": 72123022,
      "genes": [
        {
          "symbol": "BDP1",
          "ensemblId": "ENSG00000145734",
          "biotype": "protein_coding",
          "start": 71455639,
          "end": 71567820,
          "strand": "+",
          "slug": "bdp1"
        },
        {
          "symbol": "CARTPT",
          "ensemblId": "ENSG00000164326",
          "biotype": "protein_coding",
          "start": 71719126,
          "end": 71721056,
          "strand": "+",
          "slug": "cartpt"
        },
        {
          "symbol": "MAP1B",
          "ensemblId": "ENSG00000131711",
          "biotype": "protein_coding",
          "start": 72107234,
          "end": 72209565,
          "strand": "+",
          "slug": "map1b"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "classic-organic-acidurias",
        "name": "Classic Organic Acidurias",
        "diseases": [
          {
            "mondoId": "MONDO:0018950",
            "name": "3-Methylcrotonyl-CoA Carboxylase Deficiency",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Caused by variants in MCCC1 or MCCC2; many people have no symptoms, but some develop metabolic crises, particularly during illness.",
            "management": "Knowing supports awareness of illness-related risk and specialist advice where needed.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/classic-organic-acidurias"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-circulating-leucine-concentration",
        "name": "Abnormal circulating leucine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-leucine-concentration"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormal-cerebral-vascular-morphology",
        "name": "Abnormality of the cerebral blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology"
      },
      {
        "slug": "acute-hyperammonemia",
        "name": "Acute hyperammonemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/acute-hyperammonemia"
      },
      {
        "slug": "decreased-circulating-carnitine-concentration",
        "name": "Carnitine deficiency",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-circulating-carnitine-concentration"
      },
      {
        "slug": "cerebral-palsy",
        "name": "Cerebral palsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-palsy"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "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": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "hyperleucinemia",
        "name": "High blood leucine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperleucinemia"
      },
      {
        "slug": "hyperglycinuria",
        "name": "High urine glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinuria"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "ketoacidosis",
        "name": "Ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/ketoacidosis"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "slug": "organic-aciduria",
        "name": "Organic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/organic-aciduria"
      },
      {
        "slug": "propionyl-coa-carboxylase-deficiency",
        "name": "Propionyl-CoA carboxylase deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/propionyl-coa-carboxylase-deficiency"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "seborrheic-dermatitis",
        "name": "Seborrheic dermatitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/seborrheic-dermatitis"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "mccc1",
        "symbol": "MCCC1",
        "name": "methylcrotonyl-CoA carboxylase subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/genes/mccc1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}