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.
Immunogen Information
Immunogen
Fusion protein of human PHF6
Swissprot
Q8IWS0
Synonyms
AC004383.6BFLSBORJCENP 31Centromere protein 31MGC14797OTTHUMP00000024063PHD finger protein 6PHD like zinc finger proteinPHD-like zinc finger proteinPhf6PHF6