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Article

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.

Molecular genetics and metabolism - 1 Jul 2011

Hannibal Luciana, DiBello Patricia M, Yu Michelle, Miller Abby, Wang Sihe, Willard Belinda, Rosenblatt David S, Jacobsen Donald W

Abstract excerpt

Cobalamin (Cbl, B(12)) is an essential micronutrient required to fulfill the enzymatic reactions of cytosolic methylcobalamin-dependent methionine synthase and mitochondrial adenosylcobalamin-dependent methylmalonyl-CoA mutase. Mutations in the MMACHC gene (cblC complementation group) disrupt processing of the upper-axial ligand of newly internalized cobalamins, leading to functional deficiency of the vitamin....

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Source

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Identifiers

PMID: 21497120
DOI: 10.1016/j.ymgme.2011.03.008
PMCID: PMC3110603

Genes

MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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