Further Information
PHF6, BORJ, MGC14797, BFLS, CENP-31
PHF6 antibody can be used for detection of PHF6 by ELISA at 1:312500. PHF6 antibody can be used for detection of PHF6 by western blot at 5.0 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
PHF6 is a member of the plant homeodomain (PHD)-like finger (PHF) family. PHF6 is 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 its 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.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 transcriptional splice variants, encoding different isoforms, have been characterized.
- Vallee, D., (2004) J. Med. Genet. 41 (10), 778-783.
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
batch dependent
Unconjugated
Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human PHF6.
84295
PHD finger protein 6
PHF6
Homo sapiens
Liquid
PREDICTED MOLECULAR WEIGHT:
41 kDa, 35 kDa
NP_115834
28557677
Antibody is purified by protein A chromatography method.
Transcription
Q8IWS0
Optimal dilutions for each application to be determined by the researcher.