Description
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
Applications
WB, ELISA
Modification
Unmodified/Total
Source
Polyclonal Rabbit
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 and Stability
-20°C/1 year
Other Name
Molecular Weight (Da)
Gene Name
PHF6 KIAA1823
Protein Name
PHD finger protein 6 (PHD-like zinc finger protein)
Human Gene ID
84295
Human Swiss Prot No.
Q8IWS0
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.
