{ "url": "https://dantelabs.com/no/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": "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": [ "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": [ "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": "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/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": "mmaa", "symbol": "MMAA", "name": "metabolism of cobalamin associated A", "shared": 2, "url": "https://dantelabs.com/no/genes/mmaa" }, { "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": [] } }