Full name: metabolism of cobalamin associated C

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: cblC

Summary: The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

Expression: Ubiquitous expression in thyroid (RPKM 13.1), kidney (RPKM 10.6) and 25 other tissues

Gene size: 13083bp

Exon count: 4