PTCH2
PTCH2 is a human gene that encodes the protein Patched 2. This protein is a member of the Patched family and is involved in the Hedgehog signaling pathway, a key regulator of cell growth and differentiation during embryogenesis and tissue regeneration.
Function[edit | edit source]
The PTCH2 protein is a receptor for the Sonic hedgehog (SHH) protein, one of three proteins in the Hedgehog family that serve as signaling molecules. These proteins bind to the PTCH2 receptor, which inhibits the activity of the Smoothened (SMO) protein. This inhibition is necessary for proper cell growth and differentiation.
Clinical Significance[edit | edit source]
Mutations in the PTCH2 gene have been associated with a variety of medical conditions. These include basal cell carcinoma, the most common type of skin cancer, and holoprosencephaly, a severe brain malformation. Research is ongoing to understand the role of PTCH2 in these and other conditions.
See Also[edit | edit source]
- Patched (gene)
- Hedgehog signaling pathway
- Sonic hedgehog
- Smoothened
- Basal cell carcinoma
- Holoprosencephaly
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
