- Gene Overview
- Interaction Network
- Sequence Verification
MMAB, metabolism of cobalamin associated B
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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]
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Gene Synonyms (ATR, CFAP23, cblB, cob, corrinoid adenosyltransferase, ATP:cob(I)alamin adenosyltransferase, ATP:corrinoid adenosyltransferase, aquocob(I)alamin vitamin B12s adenosyltransferase, cilia and flagella associated protein 23, cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial, cob(II)alamin adenosyltransferase, cob(II)yrinic acid a,c-diamide adenosyltransferase, cobinamide/cobalamin adenosyltransferase, methylmalonic aciduria (cobalamin deficiency) cblB type, methylmalonic aciduria type B protein,)
- NCBI Gene ID:
326625
- Species:
Homo sapiens (Human)
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UNIPROT ID#>>Q96EY8
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
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metabolism of cobalamin associated B interacts with:
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