Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
326625
Gene name Gene Name - the full gene name approved by the HGNC.
Metabolism of cobalamin associated B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MMAB
Synonyms (NCBI Gene) Gene synonyms aliases
ATR, CFAP23, cblB, cob
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent meth
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28941784 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs35648932 C>T Pathogenic, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs117269384 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Non coding transcript variant, coding sequence variant, synonymous variant, missense variant
rs199971687 C>T Pathogenic Splice acceptor variant
rs369296618 G>A Pathogenic Genic downstream transcript variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017572 hsa-miR-335-5p Microarray 18185580
MIRT026432 hsa-miR-192-5p Microarray 19074876
MIRT046018 hsa-miR-125b-5p CLASH 23622248
MIRT616247 hsa-miR-342-3p HITS-CLIP 23313552
MIRT616949 hsa-miR-5088-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25910212, 32814053
GO:0005524 Function ATP binding IEA
GO:0005759 Component Mitochondrial matrix TAS
GO:0008817 Function Cob(I)yrinic acid a,c-diamide adenosyltransferase activity IBA 21873635
GO:0008817 Function Cob(I)yrinic acid a,c-diamide adenosyltransferase activity IDA 12514191
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607568 19331 ENSG00000139428
Protein
UniProt ID Q96EY8
Protein name Corrinoid adenosyltransferase MMAB (EC 2.5.1.-) (ATP:co(I)rrinoid adenosyltransferase MMAB) (Methylmalonic aciduria type B protein)
Protein function Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion (PubMed:12514191). Generates adenosylcobalamin (AdoCbl) and dire
PDB 2IDX , 6D5K , 6D5X , 7RUT , 7RUU , 7RUV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01923 Cob_adeno_trans 58 227 Cobalamin adenosyltransferase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver and skeletal muscle.
Sequence
Sequence length 250
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
Cobalamin transport and metabolism
  Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MMAB causes methylmalonic aciduria type cblB
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Methylmalonic aciduria Methylmalonic aciduria cblB type rs397509361, rs118204047, rs397509362, rs121918241, rs121918243, rs121918248, rs121918249, rs121918250, rs121918251, rs121918252, rs121918253, rs2127419920, rs121918254, rs121918255, rs121918256
View all (230 more)
24516753, 12471062, 29039164, 24059531, 17410422, 20696242, 17957493, 16410054, 22614770, 19625202, 20549364, 18251506, 21048060, 27604308, 23674520
View all (10 more)
Neutropenia Neutropenia rs879253882
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder 22348086 ClinVar
Methylmalonic Aciduria methylmalonic aciduria, cblB type GenCC
Neuroticism Neuroticism GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Cardiomyopathies Associate 35712814
Coronary Disease Associate 27716295
Depressive Disorder Associate 22348086
Diabetes Mellitus Type 2 Associate 22348086
Dyslipidemias Associate 27716295
Genetic Diseases Inborn Associate 22348086
Metabolism Inborn Errors Associate 31203192
Methylmalonic acidemia Associate 20556797, 27716295, 29660608, 34915869, 35712814, 37248539, 39633313
Methylmalonic Aciduria and Homocystinuria CblF Type Associate 27716295
Methylmalonic aciduria cblB type Associate 29660608, 34796408, 35712814