PHD finger protein 6; PHD-like zinc finger protein (PHF6, KIAA1823)

Function

• may play a role in transcriptional regulation
• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

contains 2 PHD-type Zn+2 fingers

Compartment

• nucleus, nucleolus
• particularly localizes to the nucleolus

Alternative splicing

named isoforms=2

Expression

ubiquitously expressed

Pathology

• defects in PHF6 are the cause of Boerjeson-Forssman syndrome

More general terms

• PHD finger protein
• nuclear protein
• phosphoprotein

Additional terms

• Borjeson-Forssman-Lehmann syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=84295
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:84295
• OMIM: https://mirror.omim.org/entry/300414
• OMIM: https://mirror.omim.org/entry/301900
• UniProt: http://www.uniprot.org/uniprot/Q8IWS0.html