Gene Gene information from NCBI Gene database.
Entrez ID 326625
Gene name Metabolism of cobalamin associated B
Gene symbol MMAB
Synonyms (NCBI Gene)
ATRCFAP23cblBcob
Chromosome 12
Chromosome location 12q24.11
Summary 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.
31
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.
1278
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 25910212, 32814053, 33961781
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607568 19331 ENSG00000139428
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
545
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Methylmalonic acidemia Pathogenic; Likely pathogenic rs1387128853, rs28941784, rs369296618, rs1555274496, rs756414548, rs864309512, rs199971687, rs763935916, rs773059864, rs557884699, rs1481415459 RCV003120620
RCV000296390
RCV000780427
RCV001804922
RCV001420745
RCV002509298
RCV001194232
RCV000590462
RCV004017714
RCV001194231
RCV005240422
Methylmalonic aciduria Pathogenic rs763935916 RCV004798809
Methylmalonic aciduria, cblB type Likely pathogenic; Pathogenic rs1555274496, rs398124434, rs869320655, rs2136208377, rs2136192590, rs2136192612, rs1592997663, rs2136198351, rs2136198361, rs2136199221, rs1392513631, rs2136199436, rs778169806, rs1387128853, rs2136203848
View all (65 more)
RCV001317043
RCV000203347
RCV001377746
RCV001380085
RCV001527457
RCV001527456
RCV001527455
RCV001527454
RCV001527453
RCV001527452
RCV001527451
RCV001527450
RCV001527449
RCV001527448
RCV001527447
RCV001527446
RCV001527445
RCV001527444
RCV001527443
RCV001806320
RCV001897087
RCV002007211
RCV001941853
RCV001960672
RCV002012364
RCV001893701
RCV001939364
RCV001984532
RCV000003241
RCV000003243
RCV000190603
RCV000669812
RCV000203392
RCV002756216
RCV002866197
RCV002880621
RCV002876177
RCV000202588
RCV000202597
RCV000202577
RCV000202589
RCV000202602
RCV000203356
RCV000203348
RCV000203326
RCV003043456
RCV000210838
RCV000210846
RCV003227567
RCV001211421
RCV003461861
RCV003470141
RCV003461862
RCV003470142
RCV003461863
RCV003461864
RCV003470143
RCV003482196
RCV003501379
RCV003501721
RCV003501935
RCV003502005
RCV003500093
RCV003500120
RCV003607680
RCV003607687
RCV003608428
RCV003608641
RCV003815824
RCV003867884
RCV004576189
RCV004576190
RCV004574884
RCV000625542
RCV000665914
RCV000674468
RCV000667435
RCV000673427
RCV000669393
RCV000666491
RCV000666211
RCV000674351
RCV000668717
RCV000669558
RCV000665638
RCV000674465
RCV000803441
RCV000809713
RCV000799238
RCV001035736
RCV001067639
RCV001241506
MMAB-related disorder Pathogenic; Likely pathogenic rs758790126, rs28941784 RCV003401960
RCV003398428
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs12309115 RCV005925102
Familial prostate cancer Conflicting classifications of pathogenicity rs756195708 RCV005893617
Gastric cancer -; Benign rs2136208277, rs2241201 RCV005930181
RCV005893061
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Benign rs9593 RCV001274799
Associations from Text MiningDisease associations identified through Pubtator
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