PHF6 Antibody

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.

For short periods of storage (days) store at 4˚ C. For longer periods of storage, store PHF6 antibody at -20˚ C. As with any antibody avoid repeat freeze-thaw cycles.

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 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.