MMACHC Peptide - C-Terminal Region Blocking Peptide

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]

MMACHC: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Defects in MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMAHCC). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Belongs to the MMACHC family.

Protein type: Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1p34.1

Cellular Component: mitochondrion; cytosol

Molecular Function: protein binding; cobalamin binding

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

Disease: Methylmalonic Aciduria And Homocystinuria, Cblc Type