{
  "url": "https://dantelabs.com/no/genes/mmaa",
  "gene": {
    "slug": "mmaa",
    "symbol": "MMAA",
    "name": "metabolism of cobalamin associated A",
    "hgnc": "HGNC:18871",
    "summary": null,
    "location": "4q31.21",
    "locusType": "gene with protein product",
    "aliases": [
      "cblA"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000151611",
    "entrezId": 166785,
    "omim": [
      "607481"
    ],
    "uniprot": [
      "Q8IVH4"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "4",
      "start": 145619385,
      "end": 145660033,
      "strand": "+",
      "ensemblTranscript": "ENST00000649156.2",
      "refseqTranscript": "NM_172250.3",
      "ensemblProtein": "ENSP00000497008.1",
      "refseqProtein": "NP_758454.1",
      "exons": [
        {
          "start": 145619385,
          "end": 145619407
        },
        {
          "start": 145639075,
          "end": 145639578
        },
        {
          "start": 145642363,
          "end": 145642485
        },
        {
          "start": 145645986,
          "end": 145646156
        },
        {
          "start": 145651062,
          "end": 145651147
        },
        {
          "start": 145653994,
          "end": 145654143
        },
        {
          "start": 145655147,
          "end": 145660033
        }
      ],
      "cds": {
        "start": 145639140,
        "end": 145655434
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "4",
      "start": 146539415,
      "end": 146581187,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 145139709,
      "end": 146139708,
      "genes": [
        {
          "symbol": "OTUD4",
          "ensemblId": "ENSG00000164164",
          "biotype": "protein_coding",
          "start": 145110838,
          "end": 145180631,
          "strand": "-",
          "slug": "otud4"
        },
        {
          "symbol": "SMAD1",
          "ensemblId": "ENSG00000170365",
          "biotype": "protein_coding",
          "start": 145480769,
          "end": 145559191,
          "strand": "+",
          "slug": "smad1"
        },
        {
          "symbol": "C4orf51",
          "ensemblId": "ENSG00000237136",
          "biotype": "protein_coding",
          "start": 145680088,
          "end": 145771032,
          "strand": "+",
          "slug": "c4orf51"
        },
        {
          "symbol": "ZNF827",
          "ensemblId": "ENSG00000151612",
          "biotype": "protein_coding",
          "start": 145757627,
          "end": 145939036,
          "strand": "-",
          "slug": "znf827"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "homocystinuria-and-cobalamin-disorders",
        "name": "Homocystinuri og kobalamin-forstyrrelser",
        "diseases": [
          {
            "mondoId": "MONDO:0019220",
            "name": "Arvelige forstyrrelser i kobalaminmetabolisme og -transport",
            "genes": 15,
            "inheritance": "autosomal-recessive",
            "description": "Inkluderer defekter i opptak og transport av vitamin B12, som Imerslund-Gräsbecks syndrom (CUBN, AMN), mangel på indre faktor (CBLIF) og transkobalamin II-mangel (TCN2), samt defekter i intracellulær prosessering av kobalamin, som kan føre til megaloblastisk anemi, nerveskade og manglende vekst.",
            "management": "Kunnskap om dette gjør det mulig med livslange vitamin B12-injeksjoner eller annen kobalaminbehandling, noe som kan forebygge anemi og nevrologisk skade.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/homocystinuria-and-cobalamin-disorders"
      },
      {
        "slug": "methylmalonic-and-propionic-acidemia",
        "name": "Metylmalonsyreacidemi og propionsyreacidemi",
        "diseases": [
          {
            "mondoId": "MONDO:0002012",
            "name": "Metylmalonsyreacidemi",
            "genes": 12,
            "inheritance": "autosomal-recessive",
            "description": "Forårsaket av varianter i MMUT, MMAA, MMAB, MCEE og beslektede gener for kobalaminbehandling, som kan føre til oppkast, dårlig appetitt, metabolske kriser, utviklingsproblemer og nyresykdom.",
            "management": "Når du vet om tilstanden, kan du få spesialistveiledet kosthold, karnitin, vitamin B12 ved responsive former og en beredskapsplan, noe som reduserer risikoen for kriser.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/methylmalonic-and-propionic-acidemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "brisk-reflexes",
        "name": "Brisk reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/brisk-reflexes"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "decreased-circulating-adenosylcobalamin-concentration",
        "name": "Decreased circulating adenosylcobalamin concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-circulating-adenosylcobalamin-concentration"
      },
      {
        "slug": "decreased-methylmalonyl-coa-mutase-activity",
        "name": "Decreased methylmalonyl-CoA mutase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/decreased-methylmalonyl-coa-mutase-activity"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "elevated-serum-anion-gap",
        "name": "Elevated serum anion gap",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-serum-anion-gap"
      },
      {
        "slug": "elevated-urine-2-methylcitric-acid-level",
        "name": "Elevated urine 2-methylcitric acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urine-2-methylcitric-acid-level"
      },
      {
        "slug": "elevated-urine-3-hydroxypropionic-acid-level",
        "name": "Elevated urine 3-hydroxypropionic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urine-3-hydroxypropionic-acid-level"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "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": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "ketosis",
        "name": "High levels of ketone bodies",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/ketosis"
      },
      {
        "slug": "ketonuria",
        "name": "Ketonuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ketonuria"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "methylmalonic-acidemia",
        "name": "Methylmalonic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/methylmalonic-acidemia"
      },
      {
        "slug": "methylmalonic-aciduria",
        "name": "Methylmalonic aciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/methylmalonic-aciduria"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/abcd4"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/cd320"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/lmbrd1"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/mmab"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/mmadhc"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "name": "peroxiredoxin 1",
        "shared": 2,
        "url": "https://dantelabs.com/no/genes/prdx1"
      },
      {
        "slug": "acsf3",
        "symbol": "ACSF3",
        "name": "acyl-CoA synthetase family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/acsf3"
      },
      {
        "slug": "amn",
        "symbol": "AMN",
        "name": "amnion associated transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/amn"
      },
      {
        "slug": "cblif",
        "symbol": "CBLIF",
        "name": "cobalamin binding intrinsic factor",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cblif"
      },
      {
        "slug": "cubn",
        "symbol": "CUBN",
        "name": "cubilin",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/cubn"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}