Medical Knowledge Cockpit ectrodactyly, ectodermal dysplasia

TP63

• TAp63 is important for cardiac differentiation of embryonic stem cells and heart development
• TAp63 prevents premature aging by promoting adult stem cell maintenance
• Cleft lip and palate: understanding genetic and environmental influences

TP63

Somatic tumors

HNSCC, DLBCL

Tumor types germline

NSCLC

Cancer Syndrom

Translocation partner

TBL1XR1

Name

tumor protein p63

Chromosome banding

3q28

Cancer molecular gen.

Mutation type

Mis, N, T

Other syndrome disease

associated with Hay-Wells syndrome, ADULT syndrome, ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC), acro-dermato-ungual-lacrimal-tooth syndrome, limb mammary syndrome, Rapp-Hodgkin syndrome, split hand-split foot malformation