Background:

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.

Applications:

ELISA, IHC

Name of antibody:

PHF6

Immunogen:

Fusion protein of human PHF6

Full name:

PHD finger protein 6

Synonyms:

BFLS; BORJ; CENP-31

SwissProt:

Q8IWS0

ELISA Recommended dilution:

5000-10000

IHC positive control:

Human gastric cancer and Human lung cancer

IHC Recommend dilution:

100-300