Variant: rs121918524 

    present in Gene: PHF8
    present in Chromosome: X
    Position on Chromosome: 54011232
    Alleles of this Variant: A/G

rs121918524 in PHF8 gene and Siderius X-linked mental retardation syndrome PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 20101266 2010 Structural insights into a novel histone demethylase PHF8.

PMID 20208542 2010 PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation.

PMID 20346720 2010 A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation.

PMID 20421419 2010 PHF8 targets histone methylation and RNA polymerase II to activate transcription.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 20622854 2010 PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression.

PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 20548336 2010 The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation.