{
  "url": "https://dantelabs.com/tr/genes/mmut",
  "gene": {
    "slug": "mmut",
    "symbol": "MMUT",
    "name": "methylmalonyl-CoA mutase",
    "hgnc": "HGNC:7526",
    "summary": null,
    "location": "6p12.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MCM"
    ],
    "previousSymbols": [
      "MUT"
    ],
    "ensemblId": "ENSG00000146085",
    "entrezId": 4594,
    "omim": [
      "609058"
    ],
    "uniprot": [
      "P22033"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 49430360,
      "end": 49463253,
      "strand": "-",
      "ensemblTranscript": "ENST00000274813.4",
      "refseqTranscript": "NM_000255.4",
      "ensemblProtein": "ENSP00000274813.3",
      "refseqProtein": "NP_000246.2",
      "exons": [
        {
          "start": 49430360,
          "end": 49431856
        },
        {
          "start": 49435456,
          "end": 49435623
        },
        {
          "start": 49440206,
          "end": 49440353
        },
        {
          "start": 49441840,
          "end": 49441971
        },
        {
          "start": 49444639,
          "end": 49444754
        },
        {
          "start": 49447670,
          "end": 49447785
        },
        {
          "start": 49448816,
          "end": 49448927
        },
        {
          "start": 49451466,
          "end": 49451714
        },
        {
          "start": 49453585,
          "end": 49453756
        },
        {
          "start": 49456080,
          "end": 49456237
        },
        {
          "start": 49457691,
          "end": 49458058
        },
        {
          "start": 49459082,
          "end": 49459505
        },
        {
          "start": 49463103,
          "end": 49463253
        }
      ],
      "cds": {
        "start": 49431728,
        "end": 49459466
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 49398073,
      "end": 49430904,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 48946807,
      "end": 49946806,
      "genes": [
        {
          "symbol": "CENPQ",
          "ensemblId": "ENSG00000031691",
          "biotype": "protein_coding",
          "start": 49463335,
          "end": 49495815,
          "strand": "+",
          "slug": "cenpq"
        },
        {
          "symbol": "GLYATL3",
          "ensemblId": "ENSG00000203972",
          "biotype": "protein_coding",
          "start": 49499923,
          "end": 49528078,
          "strand": "+",
          "slug": "glyatl3"
        },
        {
          "symbol": "C6orf141",
          "ensemblId": "ENSG00000197261",
          "biotype": "protein_coding",
          "start": 49550656,
          "end": 49561914,
          "strand": "+",
          "slug": "c6orf141"
        },
        {
          "symbol": "RHAG",
          "ensemblId": "ENSG00000112077",
          "biotype": "protein_coding",
          "start": 49605157,
          "end": 49636839,
          "strand": "-",
          "slug": "rhag"
        },
        {
          "symbol": "CRISP2",
          "ensemblId": "ENSG00000124490",
          "biotype": "protein_coding",
          "start": 49692358,
          "end": 49714703,
          "strand": "-",
          "slug": "crisp2"
        },
        {
          "symbol": "CRISP3",
          "ensemblId": "ENSG00000096006",
          "biotype": "protein_coding",
          "start": 49727376,
          "end": 49744445,
          "strand": "-",
          "slug": "crisp3"
        },
        {
          "symbol": "PGK2",
          "ensemblId": "ENSG00000170950",
          "biotype": "protein_coding",
          "start": 49773390,
          "end": 49787285,
          "strand": "-",
          "slug": "pgk2"
        },
        {
          "symbol": "CRISP1",
          "ensemblId": "ENSG00000124812",
          "biotype": "protein_coding",
          "start": 49834257,
          "end": 49877096,
          "strand": "-",
          "slug": "crisp1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "methylmalonic-and-propionic-acidemia",
        "name": "Metilmalonik ve Propiyonik Asidemi",
        "diseases": [
          {
            "mondoId": "MONDO:0002012",
            "name": "Metilmalonik Asidemi",
            "genes": 12,
            "inheritance": "autosomal-recessive",
            "description": "MMUT, MMAA, MMAB, MCEE ve ilgili kobalamin işleme genlerindeki varyantlardan kaynaklanır; kusmaya, beslenme güçlüğüne, metabolik krizlere, gelişimsel sorunlara ve böbrek hastalığına yol açabilir.",
            "management": "Bu durumu bilmek, uzman diyet yönetimine, karnitine, yanıt veren formlar için B12 vitaminine ve bir acil durum planına olanak tanır; bu da kriz riskini azaltır.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ],
              "actionability": 10
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/tr/conditions/methylmalonic-and-propionic-acidemia"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "renal-tubular-dysfunction",
        "name": "Abnormal function of filtrating structures in kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-tubular-dysfunction"
      },
      {
        "slug": "abnormal-globus-pallidus-morphology",
        "name": "Abnormal globus pallidus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-globus-pallidus-morphology"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "cerebellar-hemorrhage",
        "name": "Cerebellar hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hemorrhage"
      },
      {
        "slug": "chorea",
        "name": "Chorea",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorea"
      },
      {
        "slug": "choreoathetosis",
        "name": "Choreoathetosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choreoathetosis"
      },
      {
        "slug": "coma",
        "name": "Coma",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/coma"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "dehydration",
        "name": "Dehydration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dehydration"
      },
      {
        "slug": "delayed-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "dystonia",
        "name": "Dystonia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dystonia"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "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": "episodic-metabolic-acidosis",
        "name": "Episodic metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/episodic-metabolic-acidosis"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hyperammonemia",
        "name": "High blood ammonia levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperammonemia"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "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"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "metabolic-ketoacidosis",
        "name": "Metabolic ketoacidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metabolic-ketoacidosis"
      },
      {
        "slug": "methylmalonic-acidemia",
        "name": "Methylmalonic acidemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "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": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "nausea-and-vomiting",
        "name": "Nausea and vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nausea-and-vomiting"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "pancreatitis",
        "name": "Pancreatic inflammation",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancreatitis"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "renal-insufficiency",
        "name": "Renal failure",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-insufficiency"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "stroke",
        "name": "Stroke",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stroke"
      },
      {
        "slug": "tubulointerstitial-nephritis",
        "name": "Tubulointerstitial nephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/tubulointerstitial-nephritis"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vomiting"
      }
    ],
    "related": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "name": "ATP binding cassette subfamily D member 4",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/abcd4"
      },
      {
        "slug": "acsf3",
        "symbol": "ACSF3",
        "name": "acyl-CoA synthetase family member 3",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/acsf3"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "name": "CD320 molecule",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/cd320"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "name": "host cell factor C1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "name": "LMBR1 domain containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/lmbrd1"
      },
      {
        "slug": "mcee",
        "symbol": "MCEE",
        "name": "methylmalonyl-CoA epimerase",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/mcee"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "name": "metabolism of cobalamin associated A",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "name": "metabolism of cobalamin associated B",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/mmab"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "name": "metabolism of cobalamin associated C",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/mmachc"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "name": "metabolism of cobalamin associated D",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/mmadhc"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "name": "peroxiredoxin 1",
        "shared": 1,
        "url": "https://dantelabs.com/tr/genes/prdx1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}