{ "url": "https://dantelabs.com/genes/mmab", "gene": { "slug": "mmab", "symbol": "MMAB", "name": "metabolism of cobalamin associated B", "hgnc": "HGNC:19331", "summary": null, "location": "12q24.11", "locusType": "gene with protein product", "aliases": [ "cblB", "CFAP23" ], "previousSymbols": [], "ensemblId": "ENSG00000139428", "entrezId": 326625, "omim": [ "607568" ], "uniprot": [ "Q96EY8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 109553715, "end": 109573504, "strand": "-", "ensemblTranscript": "ENST00000545712.7", "refseqTranscript": "NM_052845.4", "ensemblProtein": "ENSP00000445920.1", "refseqProtein": "NP_443077.1", "exons": [ { "start": 109553715, "end": 109557136 }, { "start": 109559096, "end": 109559155 }, { "start": 109561040, "end": 109561104 }, { "start": 109561420, "end": 109561517 }, { "start": 109561780, "end": 109561852 }, { "start": 109565119, "end": 109565176 }, { "start": 109568770, "end": 109568863 }, { "start": 109571649, "end": 109571710 }, { "start": 109573347, "end": 109573504 } ], "cds": { "start": 109557028, "end": 109573480 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 109991542, "end": 110011679, "strand": "-" }, "neighbourhood": { "release": "116", "start": 109063610, "end": 110063609, "genes": [ { "symbol": "USP30", "ensemblId": "ENSG00000135093", "biotype": "protein_coding", "start": 109023089, "end": 109088023, "strand": "+", "slug": "usp30" }, { "symbol": "ALKBH2", "ensemblId": "ENSG00000189046", "biotype": "protein_coding", "start": 109085154, "end": 109098462, "strand": "-", "slug": "alkbh2" }, { "symbol": "UNG", "ensemblId": "ENSG00000076248", "biotype": "protein_coding", "start": 109097569, "end": 109126725, "strand": "+", "slug": "ung" }, { "symbol": "ACACB", "ensemblId": "ENSG00000076555", "biotype": "protein_coding", "start": 109116320, "end": 109268226, "strand": "+", "slug": "acacb" }, { "symbol": "FOXN4", "ensemblId": "ENSG00000139445", "biotype": "protein_coding", "start": 109277978, "end": 109309289, "strand": "-", "slug": "foxn4" }, { "symbol": "MYO1H", "ensemblId": "ENSG00000174527", "biotype": "protein_coding", "start": 109347900, "end": 109455523, "strand": "+", "slug": "myo1h" }, { "symbol": "KCTD10", "ensemblId": "ENSG00000110906", "biotype": "protein_coding", "start": 109448655, "end": 109477359, "strand": "-", "slug": "kctd10" }, { "symbol": "UBE3B", "ensemblId": "ENSG00000151148", "biotype": "protein_coding", "start": 109477375, "end": 109536705, "strand": "+", "slug": "ube3b" }, { "symbol": "MVK", "ensemblId": "ENSG00000110921", "biotype": "protein_coding", "start": 109573255, "end": 109600609, "strand": "+", "slug": "mvk" }, { "symbol": "FAM222A", "ensemblId": "ENSG00000139438", "biotype": "protein_coding", "start": 109713819, "end": 109770495, "strand": "+", "slug": "fam222a" }, { "symbol": "TRPV4", "ensemblId": "ENSG00000111199", "biotype": "protein_coding", "start": 109783087, "end": 109833542, "strand": "-", "slug": "trpv4" }, { "symbol": "GLTP", "ensemblId": "ENSG00000139433", "biotype": "protein_coding", "start": 109850943, "end": 109880549, "strand": "-", "slug": "gltp" }, { "symbol": "TCHP", "ensemblId": "ENSG00000139437", "biotype": "protein_coding", "start": 109900264, "end": 109983841, "strand": "+", "slug": "tchp" }, { "symbol": "GIT2", "ensemblId": "ENSG00000139436", "biotype": "protein_coding", "start": 109929792, "end": 109996389, "strand": "-", "slug": "git2" }, { "symbol": "ANKRD13A", "ensemblId": "ENSG00000076513", "biotype": "protein_coding", "start": 109999186, "end": 110039763, "strand": "+", "slug": "ankrd13a" }, { "symbol": "C12orf76", "ensemblId": "ENSG00000174456", "biotype": "protein_coding", "start": 110020353, "end": 110073636, "strand": "-", "slug": "c12orf76" } ], "truncated": false }, "reports": [ { "slug": "homocystinuria-and-cobalamin-disorders", "name": "Homocystinuria & Cobalamin Disorders", "diseases": [ { "mondoId": "MONDO:0019220", "name": "Inborn Disorders of Cobalamin Metabolism and Transport", "genes": 15, "inheritance": "autosomal-recessive", "description": "Includes defects in vitamin B12 absorption and transport such as Imerslund-Gräsbeck syndrome (CUBN, AMN), intrinsic factor deficiency (CBLIF) and transcobalamin II deficiency (TCN2), as well as intracellular cobalamin processing defects, which can cause megaloblastic anaemia, nerve damage and failure to thrive.", "management": "Knowing allows lifelong vitamin B12 injections or other cobalamin treatment, which can prevent anaemia and neurological damage.", "evidence": { "gencc": [ "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/conditions/homocystinuria-and-cobalamin-disorders" }, { "slug": "methylmalonic-and-propionic-acidemia", "name": "Methylmalonic & Propionic Acidemia", "diseases": [ { "mondoId": "MONDO:0002012", "name": "Methylmalonic Acidemia", "genes": 12, "inheritance": "autosomal-recessive", "description": "Caused by variants in MMUT, MMAA, MMAB, MCEE and related cobalamin-processing genes, which can cause vomiting, poor feeding, metabolic crises, developmental problems and kidney disease.", "management": "Knowing allows specialist dietary management, carnitine, vitamin B12 for responsive forms and an emergency plan, which reduces the risk of crises.", "evidence": { "gencc": [ "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/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": "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" ], "frequency": "very-frequent", "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" ], "frequency": "obligate", "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": "delayed-gross-motor-development", "name": "Delayed motor skills", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-gross-motor-development" }, { "slug": "hyperglycinemia", "name": "Elevated blood glycine levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperglycinemia" }, { "slug": "elevated-circulating-methylmalonylcarnitine-concentration", "name": "Elevated circulating methylmalonylcarnitine concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-methylmalonylcarnitine-concentration" }, { "slug": "elevated-circulating-propionylcarnitine-concentration", "name": "Elevated circulating propionylcarnitine concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-propionylcarnitine-concentration" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "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": "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" ], "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": "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": "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" ], "url": "https://dantelabs.com/traits/metabolic-acidosis" }, { "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": "persistent-head-lag", "name": "Persistent head lag", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/persistent-head-lag" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "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/genes/abcd4" }, { "slug": "cd320", "symbol": "CD320", "name": "CD320 molecule", "shared": 2, "url": "https://dantelabs.com/genes/cd320" }, { "slug": "hcfc1", "symbol": "HCFC1", "name": "host cell factor C1", "shared": 2, "url": "https://dantelabs.com/genes/hcfc1" }, { "slug": "lmbrd1", "symbol": "LMBRD1", "name": "LMBR1 domain containing 1", "shared": 2, "url": "https://dantelabs.com/genes/lmbrd1" }, { "slug": "mmaa", "symbol": "MMAA", "name": "metabolism of cobalamin associated A", "shared": 2, "url": "https://dantelabs.com/genes/mmaa" }, { "slug": "mmachc", "symbol": "MMACHC", "name": "metabolism of cobalamin associated C", "shared": 2, "url": "https://dantelabs.com/genes/mmachc" }, { "slug": "mmadhc", "symbol": "MMADHC", "name": "metabolism of cobalamin associated D", "shared": 2, "url": "https://dantelabs.com/genes/mmadhc" }, { "slug": "prdx1", "symbol": "PRDX1", "name": "peroxiredoxin 1", "shared": 2, "url": "https://dantelabs.com/genes/prdx1" }, { "slug": "acsf3", "symbol": "ACSF3", "name": "acyl-CoA synthetase family member 3", "shared": 1, "url": "https://dantelabs.com/genes/acsf3" }, { "slug": "amn", "symbol": "AMN", "name": "amnion associated transmembrane protein", "shared": 1, "url": "https://dantelabs.com/genes/amn" }, { "slug": "cblif", "symbol": "CBLIF", "name": "cobalamin binding intrinsic factor", "shared": 1, "url": "https://dantelabs.com/genes/cblif" }, { "slug": "cubn", "symbol": "CUBN", "name": "cubilin", "shared": 1, "url": "https://dantelabs.com/genes/cubn" } ], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }