TP63 gene
The TP63 gene provides instructions for the p63 protein, a transcription factor essential for the development of skin, hair, teeth, and nails.
Normal Function
The TP63 gene provides instructions for making a protein called tumor protein p63 (also known simply as p63). The p63 protein functions as a transcription factor, which means it attaches (binds) to certain regions of DNA and controls the activity of particular genes. The p63 protein helps regulate numerous cell activities, including cell growth and division (proliferation), cell maintenance, differentiation, cell adhesion, and apoptosis.
The p63 protein plays a critical role in early development. It is especially important for the normal development of ectodermal structures, such as the skin, hair, teeth, and nails. Studies suggest that it also plays essential roles in the development of the limbs, facial features, urinary system, and other organs and tissues.
Health Conditions Related to Genetic Changes
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
At least 40 mutations in the TP63 gene have been identified in people with ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. This condition is a form of ectodermal dysplasia, a group of disorders characterized by abnormal development of the skin, hair, nails, teeth, and sweat glands. Other characteristic features include partial or complete fusion of the upper and lower eyelids and a cleft lip or palate.
Other disorders
Mutations in the TP63 gene cause several additional ectodermal dysplasias, including:
- Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome
- Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome
- Limb-mammary syndrome (LMS)
- Split hand/foot malformation type 4 (SHFM4)
The TP63 gene mutations responsible for these conditions occur in various regions of the gene and affect the function of the p63 protein in different ways, such as "gain-of-function" or "dominant-negative" mutations. These changes alter the ability of p63 to interact with other proteins or turn target genes on and off, disrupting normal ectodermal development.