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PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

Abstract:

Mutations of human PHF8 cluster within its JmjC encoding exons and are linked to mental retardation (MR) and a cleft lip/palate phenotype. Sequence comparisons, employing structural insights, suggest that PHF8 contains the double stranded beta-helix fold and ferrous iron binding residues that are present in 2-oxoglutarate-dependent oxygenases. We report that recombinant PHF8 is an Fe(II) and 2-oxoglutarate-dependent N(epsilon)-methyl lysine demethylase, which acts on histone substrates. PHF8 ...

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Authors


Loenarz, Christoph More by this author
Coleman, Mathew L More by this author
Rose, Nathan R More by this author
Cooper, Christopher D O More by this author
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Journal:
Human molecular genetics
Volume:
19
Issue:
2
Pages:
217-22
Publication date:
2010-01-15
ISSN:
1460-2083
URN:
uuid:4d018202-4ea7-4235-8793-a3a4e8afed3f
Local pid:
SGC:19843542

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