| Background | 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] |
| Synonyms | AIS antibody, B(p51A) antibody, B(p51B) antibody, EEC3 antibody, KET antibody, LMS antibody, NBP antibody, OFC8 antibody, RHS antibody, SHFM4 antibody, TP53CP antibody, TP53L antibody, TP73L antibody, p40 antibody, p51 antibody, p53CP antibody, p63 antibody, p73H antibody, p73L antibody, TP63 antibody, keratinocyte transcription factor KET antibody, CUSP antibody, amplified in squamous cell carcinoma antibody, tumor protein p53-competing protein antibody, tumor protein p63 deltaN isoform delta antibody, chronic ulcerative stomatitis protein antibody, tumor protein 63 antibody, transformation-related protein 63 antibody, tumor protein p63 antibody |