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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Methylmalonic acidemia Pathogenic; Likely pathogenic rs1387128853, rs28941784, rs369296618, rs1555274496, rs756414548, rs864309512, rs199971687, rs763935916, rs773059864, rs557884699, rs1481415459 RCV003120620
RCV000296390
RCV000780427
RCV001804922
RCV001420745
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylmalonic aciduria Pathogenic rs763935916 RCV004798809
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (87 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MMAB-related disorder Pathogenic; Likely pathogenic rs758790126, rs28941784 RCV003401960
RCV003398428
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOINFLAMMATORY SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 22072526
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34217363 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 27036622 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 27036622
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 23046476, 26112603 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 35204692 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 14961073, 15629882, 16459459, 18201552, 20668237, 22194214, 24875217, 25261476, 31659016
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases LHGDN 18201552
★☆☆☆☆
Found in Text Mining only