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HPMR

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PHD finger protein 8 OKDB#: 4378
 Symbols: PHF8 Species: human
 Synonyms: JHDM1F, MRXSSD, ZNF422, KIAA1111, DKFZp686E0868,  Locus: Xp11.22 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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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]
General function
Comment
Cellular localization
Comment
Ovarian function
Comment
Expression regulated by
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Ovarian localization
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Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Aug. 26, 2010, 11:55 a.m. by: hsueh   email:
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last update: Aug. 26, 2010, 11:56 a.m. by: hsueh    email:



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