PHF6 (PHD finger protein 6) is localized to human chromosome Xq26-q27, and was initially recognized as the gene mutated in Börjeson-Forssman-Lehmann syndrome patients. This protein is composed of 365 amino acids, and contains two imperfect zinc finger PHD domains and four nuclear localization signal regions. This gene is highly conserved across vertebrates.
Synonyms: Anti-PHD finger protein 6 antibody produced in rabbit; Anti-PHD-like zinc finger protein antibody produced in rabbit
Storage: -20C
Application: All Prestige Antibodies Powered by Atlas Antibodies are developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org)and as a result, are supported by the most extensive characterization in the industry. The Human Protein Atlas project can be subdivided into three efforts: Human Tissue Atlas, Cancer Atlas, and Human Cell Atlas. The antibodies that have been generated in support of the Tissue and Cancer Atlas projects have been tested by immunohistochemistry against hundreds of normal and disease tissues and through the recent efforts of the Human Cell Atlas project, many have been characterized by immunofluorescence to map the human proteome not only at the tissue level but now at the subcellular level. These images and the collection of this vast data set can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: PHD finger protein 6 may function as a transcriptional repressor and the process is regulated by the nucleosome remodeling and deacetylation complex. PHF6 is involved in regulating rRNA synthesis, which may contribute to its roles in cell cycle control, genomic maintenance and tumor suppression. Mutation in this gene results in the X-linked mental retardation disorder Börjeson-Forssman-Lehmann syndrome. In females, loss of this gene is associated with Coffin-Siris syndrome that is distinct from Borjeson-Forssman-Lehmann syndrome.
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