MMAB metabolism of cobalamin associated B
Gene ID: 326625, updated on 5-Mar-2024Gene type: protein coding
Also known as: ATR; cob; cblB; CFAP23
- See all available tests in GTR for this gene
- Go to complete Gene record for MMAB
- Go to Variation Viewer for MMAB variants
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 methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available | |
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available | |
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. GeneReviews: Not available | |
Methylmalonic aciduria, cblB type | See labs |
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available |
Genomic context
- Location:
- 12q24.11
- Sequence:
- Chromosome: 12; NC_000012.12 (109553715..109573504, complement)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for MMAB variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MMAB @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
- ZJU-CGGM Database
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