Mmadhc - methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in several structures, including embryo ectoderm; gut; head mesenchyme; mesonephros; and notochord. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblD. Orthologous to human MMADHC (metabolism of cobalamin associated D). [provided by Alliance of Genome Resources, Apr 2022]