Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. PHF6 (PHD finger protein 6), also known as BORJ, is a 365 amino acid protein that localizes to the nucleus and contains two PHD-type zinc fingers.. Expressed ubiquitously, PHF6 exists as two alternatively spliced isoforms and is thought to play a role in transcriptional regulation. Upon DNA damage, PHF6 is subject to phosphorylation, probably by ATM or ATR. Mutations in the gene encoding PHF6 are the cause of Boerjeson-Forssman-Lehmann syndrome (BFLS), an X-linked recessive disorder that is characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face and narrow palpebral fissure.
Informations pour la commande
Nom du produit | Ref. Catalogue | COND. | Prix HT | QTÉ | Favoris | |
Anticorps PHF6 (B-9) | sc-365013 | 200 µg/ml | $316.00 | |||
PHF6 (B-9): m-IgG Fc BP-HRP Kit | sc-537758 | 200 µg Ab; 10 µg BP | $354.00 | |||
PHF6 (B-9): m-IgGκ BP-HRP Kit | sc-535128 | 200 µg Ab; 40 µg BP | $354.00 |