TP63 : tumor protein p63
The Vital Role of TP63: Unlocking the Secrets of Human Development and Disease
Description
The TP63 gene encodes the p63 protein, a transcription factor that regulates gene expression by binding to specific DNA sequences. This protein plays a crucial role in various cellular processes, including cell growth, differentiation, adhesion, and apoptosis. TP63‘s activity significantly impacts early development and organ formation, particularly in the development of ectodermal structures like the skin, hair, teeth, and nails.
Associated Diseases
Mutations or abnormalities in the TP63 gene have been linked to several genetic disorders and developmental syndromes:
- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC): This rare condition is characterized by the absence of fingers and toes, abnormal skin and hair, and facial deformities.
- Ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome (AEC): Another rare syndrome that presents with fused eyelids, sparse hair, dental anomalies, and cleft lip and palate.
- Limb-mammary syndrome: This genetic disorder is characterized by limb deformities, such as missing fingers or toes, and mammary gland abnormalities.
- RAPADILINO syndrome: A rare condition featuring intellectual disability, facial dysmorphism, limb anomalies, and dental agenesis.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by EEC syndrome, one of the most well-known disorders associated with TP63 mutations.
