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.
