MMACHC

Methylmalonic aciduria and homocystinuria type C protein also known as MMACHC is a is_associated_with::protein that in humans is encoded by the MMACHC is_associated_with::gene.

Function
The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for is_associated_with::cobalamin uptake.

Clinical significance
Mutations are associated with is_associated_with::methylmalonic acidemia.