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Article

Functional significance of mutations in the Snf2 domain of ATRX.

Human molecular genetics - 1 Jul 2011

Mitson Matthew, Kelley Lawrence A, Sternberg Michael J E, Higgs Douglas R, Gibbons Richard J

Abstract excerpt

ATRX is a member of the Snf2 family of chromatin-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with alpha-thalassaemia (ATR-X syndrome). We have carried out an analysis of 21 disease-causing mutations within the Snf2 domain of ATRX by quantifying the expression of the ATRX protein and placing all missense mutations in their structural context by homology modelling....

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Source

Identifiers

PMID: 21505078
DOI: 10.1093/hmg/ddr163

Genes

ATRX
ATR

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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Functional significance of mutations in the Snf2 domain of ATRX.PMID 21505078Read ↗

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