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Article

Characterization of functional domains of the cblD (MMADHC) gene product.

Journal of inherited metabolic disease - 1 Sept 2014

Jusufi Jehona, Suormala Terttu, Burda Patricie, Fowler Brian, Froese D Sean, Baumgartner Matthias R

Abstract excerpt

In humans vitamin B12 (cobalamin, Cbl) must be converted into two coenzyme forms, methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), in order to maintain intracellular homeostasis of homocysteine and methylmalonic acid, respectively. Previously we have shown that in cblD patients three types of MMADHC mutations exist: 1) null mutations N-terminal to Met116 cause isolated methylmalonic aciduria (cblD-MMA) due...

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Share to Cloning, Molecular
Share to Coenzymes
Share to Homocystinuria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

Share to Methylmalonic Acid

Share to Mitochondrial Membrane Transport Proteins

Share to Mutation, Missense

Share to Vitamin B 12

Source

Identifiers

PMID: 24722857
DOI: 10.1007/s10545-014-9709-4

Genes

MMADHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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