The TP63 Break Apart FISH Probe Kit is designed to detect rearrangements in the human TP63 gene located on chromosome band 3q28.
In addition to revealing breaks, which can lead to translocation of parts of the gene, inversion, or its fusion to other genes, the probe set can also be used to identify other TP63 aberrations such as deletions or amplifications.
Rearrangements and abnormal expression of the TP63 gene – also known as AIS, B(p51A), B(p51B), EEC3, KET, LMS, NBP, OFC8, RHS, SHFM4, TP53CP, TP53L, TP73L, p40, p51, p53CP, p63, p73H, p73L – have been observed in 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.