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Article

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.

American journal of human genetics - 1 Jul 1999

Chen B, Rigat B, Curry C, Mahuran D J

Abstract excerpt

Deficiency of the GM2 activator protein, encoded by GM2A, results in the rare AB-variant form of GM2 gangliosidosis. Four mutations have been identified, but the human gene structure has been only partially characterized. We report a new patient from a Laotian deme whose cells are deficient in both GM2-activator mRNA and protein. However, reverse transcription (RT)-PCR detected some normal-sized cDNA and a...

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Identifiers

PMID: 10364519
DOI: 10.1086/302463
PMCID: PMC1378077

Genes

GM2A

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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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