TP63

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TP63 (Tumor Protein P63) is a gene that encodes the p63 protein, a transcription factor belonging to the p53 protein family. Here's a breakdown of what that means and its functions:
What is TP63/p63?

• Gene: TP63 is the gene that provides the instructions for making the p63 protein.
• Protein: p63 (tumor protein p63) is the protein produced from the TP63 gene. It functions as a transcription factor.
• Transcription Factor: This means the p63 protein binds to specific regions of DNA, controlling the activity of other genes. It can turn genes on or off, influencing various cellular processes.

• Development: p63 is crucial for normal development, especially of ectodermal structures (skin, hair, teeth, nails, and sweat glands). It also plays a role in the development of limbs, facial features, and the urinary system.
• Cellular Processes: p63 regulates many cellular activities:
• Cell growth and division (proliferation).
• Cell maintenance.
• Cell differentiation (maturation of cells to perform specific functions).
• Cell adhesion (cells sticking to each other).
• Apoptosis (programmed cell death).
• DNA Damage Response: P63 is involved with the regulation of cell death genes.
• Maintenance: Beyond development, p63 helps maintain various cells and tissues throughout life.

• The TP63 gene can produce multiple isoforms (slightly different versions) of the p63 protein.
• These isoforms are created through alternative promoter usage and alternative splicing.
• The most studied isoforms have variations at the N-terminal (TA and ΔN) and C-terminal (α, β, γ).

• Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome: An ectodermal dysplasia characterized by skin, hair, nail, teeth, and sweat gland abnormalities, along with fused eyelids (ankyloblepharon), cleft lip, and/or cleft palate.
• Other related conditions include Adult Syndrome and Limb-Mammary Syndrome.