Target：PHF6

Gene Name：PHF6 KIAA1823

Protein Name：PHD finger protein 6 (PHD-like zinc finger protein)

Human Gene Id：84295

Human Swiss Prot No：Q8IWS0

Mouse Swiss Prot No：Q9D4J7

Immunogen：Synthesized peptide derived from human protein . at AA range: 290-370

Specificity：PHF6 Polyclonal Antibody detects endogenous levels of protein.

Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：40kD

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 mental retardation, 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. [provided by RefSeq, Jun 2010],

Function：disease:Defects in PHF6 are the cause of Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]; also known as Boerjeson-Forssman syndrome (BORJ). BFLS is a X-linked recessive disorder characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.,function:May play a role in transcriptional regulation.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 2 PHD-type zinc fingers.,subcellular location:Nuclear, it particularly localizes to the nucleolus.,tissue specificity:Ubiquitously expressed.,

Subcellular Location：Nucleus. Nucleus, nucleolus. Chromosome, centromere, kinetochore . Nuclear, it particularly localizes to the nucleolus.

Expression：Ubiquitously expressed.