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Article

Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.

Molecular genetics and metabolism - 1 Nov 2012

Deme Justin C, Miousse Isabelle R, Plesa Maria, Kim Jaeseung C, Hancock Mark A, Mah Wayne, Rosenblatt David S, Coulton James W

Abstract excerpt

The genes MMACHC and MMADHC encode critical proteins involved in the intracellular metabolism of cobalamin. Two clinical features, homocystinuria and methylmalonic aciduria, define inborn errors of these genes. Based on disease phenotypes, MMADHC acts at a branch point for cobalamin delivery, app...

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Source

Identifiers

PMID: 22832074
DOI: 10.1016/j.ymgme.2012.07.001

Genes

MMADHC
MMACHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22832074-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.PMID 22832074Read ↗

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