Our TP63 Break Apart Probe is designed to detect TP63 translocations. The probe comes labeled in green and orange, but can be customized to meet your needs.
Gene Background: TP63 regulates cellular operations crucial to early development that function at large in the growth of limbs, organs, body systems, and facial features.1 TP63 remains important throughout life, too – in humans that’ve reached full maturity, it continues to regulate cell genesis and death.1 Because of its role in cell growth and maintenance, abnormalities in TP63 can have devastating physical effects, with ectodermal dysplasia, orofacial clefting and limb malformations being the most common.2 Although mutations in the gene’s DNA binding domain appear to be the root of most of the aforementioned physical abnormalities, TP63 translocations have been found to contribute to the development of several cancers, including lymphoma and lung adenocarcinoma.3
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
Gene Summary
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]
Gene Details
Gene Symbol: TP63
Gene Name: Tumor Protein P63
Chromosome: CHR3: 189349215-189615068
Locus: 3q28