Product Description

PHF6 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES9986-50, ES9986-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

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],

Reactivity: Human, Mouse

Host: Rabbit

Applications: WB, ELISA

Clonality: Polyclonal

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

Isotype: IgG

Target: PHF6

Specificity: PHF6 Polyclonal Antibody detects endogenous levels of protein.

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,

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

Expression: Ubiquitously expressed,

Observed Band (KD): 40kD

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

Storage and Stability: -20°C/1 year

Gene Name: PHF6 KIAA1823

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

Mouse SwissProt Number: Q9D4J7

Research Use Only