The PHF6 Polyclonal Antibody from MyBioSource.com is a Rabbit Polyclonal antibody. This antibody recognizes Human, and Mouse antigen. The PHF6 Polyclonal Antibody has been shown to work in the following applications: ELISA, and Immunohistochemistry.
Description
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 cognitive disability, 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