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 demet ... [truncated at 450 characters in length]|
|Author||Loenarz, Christoph; Ge, Wei; Coleman, Mathew L; et al|
|Subject||Cleft Lip Cleft Palate Hela Cells Histone Demethylases Humans Mental Retardation Mutation Protein Structure, Tertiary Substrate Specificity Transcription Factors enzymology genetics enzymology genetics chemistry genetics metabolism enzymology genetics chemistry genetics metabolism|