PHD finger protein 8 | OKDB#: 4378 |
Symbols: | PHF8 | Species: | human | ||
Synonyms: | JHDM1F, MRXSSD, ZNF422, KIAA1111, DKFZp686E0868, | Locus: | Xp11.22 in Homo sapiens |
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OMIM
Entrez Gene
Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
General Comment | NCBI 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. Defects in this gene are a cause of mental retardation syndromic X-linked Siderius type (MRXSSD). Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] | ||||
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Mutations | 0 mutations | ||||
Genomic Region | show genomic region | ||||
Phenotypes and GWAS | show phenotypes and GWAS | ||||
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created: | Aug. 26, 2010, 11:55 a.m. | by: |
hsueh email:
home page: |
last update: | Aug. 26, 2010, 11:56 a.m. | by: | hsueh email: |
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