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2010311D03RIK


Official Full Name
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Organism
Mus musculus
Gene ID
109129
Background
Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and 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, Feb 2025]

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