TP63
Also known as AIS, B(p51A), B(p51B), EEC3, KET, LMS, NBP, OFC8
Tumor protein p63, typically referred to as p63, also known as transformation-related protein 63, is a protein that in humans is encoded by the TP63 (also known as the p63) gene.
Gene data
TP63- Name
- tumor protein p63
- Type
- protein-coding
- Aliases
- AIS, B(p51A), B(p51B), EEC3, KET, LMS, NBP, OFC8, RHS, SHFM4
This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. 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. [provided by RefSeq, Aug 2016].
via MyGene.info
Article
12 sectionsContents
- Function
- Oocyte integrity
- Clinical significance
- Molecular mechanism
- Vulvar cancer
- Diagnostic utility
- Interactions
- Regulation
- See also
- References
- Further reading
- External links
Tumor protein p63, typically referred to as p63, also known as transformation-related protein 63, is a protein that in humans is encoded by the TP63 (also known as the p63) gene.
The TP63 gene was discovered 20 years after the discovery of the p53 tumor suppressor gene and along with p73 constitutes the p53 gene family based on their structural similarity. Despite being discovered significantly later than p53, phylogenetic analysis of p53, p63 and p73, suggest that p63 was the original member of the family from which p53 and p73 evolved.