PHF6 (PHD Finger Protein 6) is a Protein Coding gene. Diseases associated with PHF6 include Borjeson-Forssman-Lehmann Syndrome and Mental Retardation Epilepsy. Among its related pathways are Mesodermal Commitment Pathway. PHF6 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 PHF6 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.