Methylmalonic Aciduria (Cobalamin Deficiency) Cblb Type (MMAB) Antibody – Rabbit Polyclonal

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]

MMAB: Defects in MMAB are the cause of methylmalonic aciduria type cblB (MMAB); 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. Belongs to the Cob(I)alamin adenosyltransferase family.

Protein type: Cofactor and Vitamin Metabolism - porphyrin and chlorophyll; EC 2.5.1.17; Transferase; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 12q24

Cellular Component: mitochondrial matrix

Molecular Function: cob(I)yrinic acid a,c-diamide adenosyltransferase activity; ATP binding

Biological Process: vitamin metabolic process; cobalamin biosynthetic process; cobalamin metabolic process; water-soluble vitamin metabolic process

Disease: Methylmalonic Aciduria, Cblb Type