PHF6 rabbit pAb

SKU: ES9986

Size: 100μL

Source:Rabbit

Applications:WB;ELISA

Reactivity:Human;Mouse

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

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

Storage_stability:-20°C/1 year

Clonality:Polyclonal

Isotype:IgG

Concentration:1 mg/ml

Observed_band(KD):40kD

Human_gene_id:84295

Human_swiss_prot_no:Q8IWS0

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

Other_name:

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],