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Gene Review:

PHF8 - PHD finger protein 8

Homo sapiens

Synonyms: Histone lysine demethylase PHF8, JHDM1F, KIAA1111, MRXSSD, ZNF422

Feng, W. et al., Laumonnier, F. et al.

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Disease relevance of PHF8

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate [1].
Though further work is needed to unravel the contribution of PHF8 activity to mental retardation and cleft lip/palate, our results reveal a functional interplay between H3K4 methylation and H3K9me1/2 demethylation, linking dynamic histone methylation to rDNA transcription and neural disease [2].

Psychiatry related information on PHF8

Further studies will explore the specific mechanisms whereby PHF8 alterations lead to mental retardation and midline defects [1].

References

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. Laumonnier, F., Holbert, S., Ronce, N., Faravelli, F., Lenzner, S., Schwartz, C.E., Lespinasse, J., Van Esch, H., Lacombe, D., Goizet, C., Phan-Dinh Tuy, F., van Bokhoven, H., Fryns, J.P., Chelly, J., Ropers, H.H., Moraine, C., Hamel, B.C., Briault, S. J. Med. Genet. (2005) [Pubmed]
PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation. Feng, W., Yonezawa, M., Ye, J., Jenuwein, T., Grummt, I. Nat. Struct. Mol. Biol. (2010) [Pubmed]

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phf8	Danio rerio
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Phf8	Mus musculus
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