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Article

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gene - 10 Sept 2012

Gort Laura, de Olano Natalia, Macías-Vidal Judit, Coll M A Josep

Abstract excerpt

The GM2 gangliosidoses are autosomal recessive lysosomal storage diseases caused by a deficiency of the β-hexosaminidase A enzyme. This enzyme is composed of two polypeptide chains designated the α- and β- subunits and it interacts with the GM2 activator protein. The HEXA and HEXB genes encode the α-subunit and the β-subunit, respectively. Mutations in these genes are causative of Tay-Sachs disease (HEXA) and...

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Source

Identifiers

PMID: 22789865
DOI: 10.1016/j.gene.2012.06.080

Genes

HEXA
HEXB

Provenance

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.PMID 22789865Read ↗

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Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.Semantic proximity Read ↗

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