PHF6 polyclonal, anti-human, mouse

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.

Synonyms: BFLS, BORJ, CENP-31

Cellular Location: Nucleus

Immunogen:
Recombinant protein of human PHF6

Gene Symbol: PHF6

Gene ID: 84295

Swiss prot: Q8IWS0

Calculated MW: 35kDa

Recommended dilution:
IHC 1:100-300

Purity:
Affinity purification

Storage Buffer:
Buffer: PBS with 0.03% Proclin300, 50% glycerol, pH7.3.

Storage:
Store at -20℃. Avoid freeze / thaw cycles.