PHF6 Polyclonal Antibody

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.

Research Area: Cancer, Epigenetics and Nuclear Signaling

Synonyms:
BFLS, BORJ, CENP-31, PHF6

Immunogen: Recombinant protein of human PHF6.

Swissprot: Q8IWS0
Gene ID: 84295

Calculated MW: 41 kDa
Observed MW: 41 kDa

Purification Method: Affinity purification

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3

Concentration: 1 mg/mL
Dilution: "WB 1:500-1:2000"

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