Hu, Bovine, Canine, Equine, Primate, Mouse, Porcine, Rabbit, Rat, Chinese Hamster, Rhesus MacaqueApplications:
WB, ICC/IF, IHC, IHC-P, IPHost:
Hu, Mu, RtApplications:
WB, ICC/IF, IHC, IHC-PHost:
Species: Hu, Mu, Bovine, Canine, Equine, Ferret, Primate, Porcine, Rabbit, Rat, Chinese Hamster, Monkey
Applications: WB, ICC/IF, IHC, IHC-P, IP
Host: Rabbit Polyclonal
Applications: WB, ELISA, PA
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 Tool for PHF6
Discover related pathways, diseases and genes to PHF6. Need help? Read the Bioinformatics Tool Guide
for instructions on using this tool.