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Article

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.

Human molecular genetics - 1 Dec 1996

Picketts D J, Higgs D R, Bachoo S, Blake D J, Quarrell O W, Gibbons R J

Abstract excerpt

It was shown recently that mutations of the ATRX gene give rise to a severe, X-linked form of syndromal mental retardation associated with alpha thalassaemia (ATR-X syndrome). In this study, we have characterised the full-length cDNA and predicted structure of the ATRX protein. Comparative analysis shows that it is an entirely new member of the SNF2 subgroup of a superfamily of proteins with similar ATPase and...

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Source

Identifiers

PMID: 8968741
DOI: 10.1093/hmg/5.12.1899

Genes

ATRX
ATR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.PMID 8968741Read ↗

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Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Semantic proximity Read ↗

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From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders.Semantic proximity Read ↗

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation.Semantic proximity Read ↗

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