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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.

Abstract:

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 helicase domains. ATRX probably acts as a regulator of gene expression. Definition ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/5.12.1899

Authors


Picketts, DJ More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Molecular Medicine, Biomedical Research Centre
Quarrell, OW More by this author
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Journal:
Human molecular genetics
Volume:
5
Issue:
12
Pages:
1899-1907
Publication date:
1996-12-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:a22b2288-e2c8-43a0-a38e-5aba62439aa8
Source identifiers:
252382
Local pid:
pubs:252382

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