Gene Symbol | PHF8 |
Entrez Gene ID | 23133 |
Full Name | PHD finger protein 8 |
Synonyms | JHDM1F,KDM7B,MRXSSD,ZNF422 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Mental retardation syndrome, X-linked, Siderius type, 300263 (3) |