PTCH1

PTCH1 is a human gene that encodes a protein known as Patched 1. This protein is a member of the Patched family and is the receptor for Sonic Hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. Mutations in this gene have been associated with several diseases, including basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, and holoprosencephaly.

Function

PTCH1 is a member of the Patched gene family and encodes a protein that functions as a receptor for Sonic Hedgehog. This protein functions as a negative regulator of the Hedgehog signaling pathway. In the absence of Hedgehog ligand binding, PTCH1 suppresses the signaling activity of the Smoothened (SMO) protein. Upon binding of the Hedgehog ligand, the inhibitory effect of PTCH1 on SMO is relieved, and the downstream signaling is activated.

Clinical significance

Mutations in the PTCH1 gene have been associated with several diseases. These include:

• Basal cell nevus syndrome: This is a rare autosomal dominant disorder characterized by the development of multiple basal cell carcinomas at an early age. Individuals with this syndrome may also develop medulloblastomas, ovarian fibromas, and other tumors.

• Esophageal squamous cell carcinoma: Mutations in PTCH1 have been found in a significant number of esophageal squamous cell carcinomas, suggesting a role in the development of this cancer.

• Trichoepitheliomas: These are benign skin tumors that originate from hair follicles. Mutations in PTCH1 have been identified in some cases of trichoepitheliomas.

• Transitional cell carcinomas of the bladder: Some studies have found mutations in PTCH1 in transitional cell carcinomas of the bladder.

• Holoprosencephaly: This is a severe brain malformation caused by incomplete cleavage of the prosencephalon into right and left hemispheres. Mutations in PTCH1 have been identified in some cases of holoprosencephaly.

See also

• Sonic Hedgehog
• Patched (gene family)
• Smoothened
• Basal cell nevus syndrome
• Esophageal squamous cell carcinoma
• Trichoepitheliomas
• Transitional cell carcinomas of the bladder
• Holoprosencephaly

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