Bio Background |
The exact function of the protein encoded by this gene isnot 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 mayhave a role in the binding and intracellular trafficking ofcobalamin. Mutations in this gene are associated with methylmalonicaciduria and homocystinuria type cblC. |
Bio References |
Froese, D.S., et al. Mol. Genet. Metab. 100(1):29-36(2010)Davila, S., et al. Genes Immun. 11(3):232-238(2010)Profitlich, L.E., et al. Mol. Genet. Metab. 98(4):344-348(2009)Kim, J., et al. J. Biol. Chem. 284(48):33418-33424(2009)Richard, E., et al. Hum. Mutat. 30(11):1558-1566(2009) |