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Article

Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation.

Biochemical and biophysical research communications - 26 Dec 2003

Luka Zigmund, Wagner Conrad

Abstract excerpt

Missense mutations in the enzyme, glycine N-methyltransferase (GNMT) have been shown to be one cause of persistent isolated hypermethioninaemia in humans. These mutations were first identified by metabolite analysis and were shown to be L49P, N140S, and H176N by gene sequencing. Here we report the kinetic and conformational characterization of the wild type and the three human mutant GNMTs expressed in...

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Source

Identifiers

PMID: 14651980
DOI: 10.1016/j.bbrc.2003.11.037

Genes

GNMT

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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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