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

centromere protein 31; PHD finger protein 6; PHD-like zinc finger protein; 2700007B13Rik; 4931428F02Rik; BFLS; BORJ; CENP-31; KIAA1823; mKIAA1823; PHF6;

Q8IWS0

40KD

Mouse

Human, Mouse, Rat

WB 1:500-1:2000, IHC 1:50-1:200; IP 1:50-1:100

Store at -20 °C. Stable for 12 months from date of receipt.