Background:
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 mental retardation; 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.