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]
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Expressed in liver and skeletal muscle.
DISEASE:
Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB) [MIM:251110]; also known as methylmalonic aciduria type B or vitamin B12-responsive methylmalonicaciduria of cblB complementation type. MMAB is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.
Similarity:
Belongs to the Cob(I)alamin adenosyltransferase family.
SWISS:
Q96EY8
Gene ID:
236625
Database links:
Entrez Gene: 326625 Human
Entrez Gene: 77697 Mouse
Omim: 607568 Human
SwissProt: Q96EY8 Human
SwissProt: Q9D273 Mouse
Unigene: 12106 Human
Unigene: 105182 Mouse
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