The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 41 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
FunctionMay play a role in transcriptional regulation.
Tissue specificityUbiquitously expressed.
Involvement in diseaseDefects 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.