PHF6, PHD finger protein 6

PHF6, PHD finger protein 6

• This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]

• Gene Synonyms (PHD finger protein 6, PHD-like zinc finger protein, centromere protein 31, truncated PHF6, BFLS, BORJ, CENP-31,)
• NCBI Gene ID: 84295
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8IWS0
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

PHD finger protein 6 interacts with:

• heterogeneous nuclear ribonucleoprotein A3
  ring finger and CCCH-type domains 1
  tubulin alpha 1c

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.