Description
Product Characteristics:
This gene encodes a member of the p53 family of transcription factors. An animal model, p63 -/- mice, has been useful in defining the role this protein plays in the development and maintenance of stratified epithelial tissues. p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3), split-hand/foot malformation 4 (SHFM4), ankyloblepharon-ectodermal defects-cleft lip/palate, ADULT syndrome (acro-dermato-ungual-lacrimal-tooth), limb-mammary syndrome, Rap-Hodgkin syndrome (RHS), and orofacial cleft 8. Both alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different proteins. Many transcripts encoding different proteins have been reported but the biological validity and the full-length nature of these variants have not been determined. [provided by RefSeq, Jul 2008].
Synonyms: p63 phospho S160/162, p63 phospho Ser160/Ser162, p-p63 Ser160/Ser162, AIS, Amplied in squamous cell carcinoma, Bp51A, Bp51B, p63 Alpha, Chronic ulcerative stomatitis protein, CUSP, DN p63 alpha 1, DNp63, EEC3, Keratinocyte transcription factor, Keratinocyte transcription factor KET, KET, LMS, NBP, OFC8, p40, p51, P51/P63, p53 like transcription factor, p53 related protein, p53-related protein p63, p53CP, p63, P73, p73H, p73L, RHS, SHFM4, TP53CP, TP53L, TP63, TP73, TP73L, Transformation related protein 63, Trp53rp1, Trp63, Tumor protein 63, tumor protein 63 kDa with strong homology to p53, Tumor protein p53-competing protein, Tumor protein p53-like, tumor protein p63, Tumor protein p73, tumor protein p73-like, P63_HUMAN.
Target Information: The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]