PHD Finger Protein 8

Alternative Names

  • PHF8
  • Zinc Finger Protein 422
  • ZNF422
  • KIAA1111
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OMIM Number

300560

NCBI Gene ID

23133

Uniprot ID

Q9UPP1

Length

112,257 bases

No. of Exons

29

No. of isoforms

5

Protein Name

Histone lysine demethylase PHF8

Molecular Mass

117864 Da

Amino Acid Count

1060

Genomic Location

chrX:53,936,680-54,048,936

Gene Map Locus
Xp11.22

Description

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. [From RefSeq]

Epidemiology in the Arab World

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