PHF8

PHF8 (Plant Homeodomain Finger Protein 8) is a protein that in humans is encoded by the PHF8 gene. It is a histone lysine demethylase that is involved in the regulation of gene expression. Mutations in this gene have been associated with X-linked mental retardation and cleft lip/cleft palate.

Function

PHF8 is a histone demethylase that specifically demethylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, thereby playing a central role in histone code. It preferentially demethylates mono- and dimethylated H3 'Lys-9' and H3 'Lys-27', but has weak or no activity on trimethylated forms. Demethylation of Lys residue generates formaldehyde and succinate.

Clinical significance

Mutations in the PHF8 gene have been associated with X-linked mental retardation with cleft lip/cleft palate. The PHF8 protein may play a role in the regulation of transcription, and it interacts with genes that contain a specific DNA sequence. Mutations in the PHF8 gene disrupt the protein's ability to bind to DNA, which may affect the regulation of certain genes during development.

See also

• Histone demethylase
• X-linked mental retardation

External links

• PHF8 at the US National Library of Medicine Medical Subject Headings (MeSH)