PHF6 Products

Description

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 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 transcriptional splice variants, encoding different isoforms, have been characterized.

Bioinformatics

Uniprot	AAH05994.1 Human NP_001015877 Human NP_001015877.1 Human NP_115834 Human Q8IWS0 Human
Product By Gene ID	84295
Alternate Names	BFLS BORJ Borjeson-Forssman-Lehmann syndrome KIAA1823 MGC14797 PHD finger protein 6 PHD-like zinc finger protein