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Article

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Human molecular genetics - 15 Dec 2002

Dobson C Melissa, Wai Timothy, Leclerc Daniel, Kadir Hakan, Narang Monica, Lerner-Ellis Jordan P, Hudson Thomas J, Rosenblatt David S, Gravel Roy A

Abstract excerpt

The methylmalonic acidurias are metabolic disorders resulting from deficient methylmalonyl-CoA mutase activity, a vitamin B(12)-dependent enzyme. We have cloned the gene for the cblB complementation group caused by deficient activity of a cob(I)alamin adenosyltransferase. This was accomplished by searching bacterial genomes for genes in close proximity to the methylmalonyl-CoA mutase gene that might encode a...

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Source

Identifiers

PMID: 12471062
DOI: 10.1093/hmg/11.26.3361

Genes

MMAB

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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