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PTCH1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PTCH1 gene

The PTCH1 gene acts as a tumor suppressor by providing instructions for the patched-1 protein, which regulates cell growth and development through the Sonic Hedgehog signaling pathway.

Normal Function

The PTCH1 gene provides instructions for producing the patched-1 protein, which functions as a receptor. A protein called Sonic Hedgehog acts as a ligand for this receptor. Together, they trigger signals that affect cell development and function.

In the absence of Sonic Hedgehog, patched-1 prevents cells from growing and dividing (proliferating). When Sonic Hedgehog is attached, patched-1 stops suppressing cell proliferation. Because of its role in preventing uncontrolled cell growth, PTCH1 is classified as a tumor suppressor gene.

Health Conditions Related to Genetic Changes

Gorlin syndrome

More than 225 mutations in the PTCH1 gene have been found to cause Gorlin syndrome (nevoid basal cell carcinoma syndrome). These mutations prevent the production of functional patched-1, meaning the receptor cannot effectively suppress cell growth. This leads to uncontrolled cell proliferation and the formation of cancerous and noncancerous tumors.

9q22.3 microdeletion

Individuals with a 9q22.3 microdeletion are missing one copy of the PTCH1 gene. The loss of this gene prevents the body from producing enough patched-1 to suppress cell proliferation, which contributes to the tumor development characteristic of Gorlin syndrome.

Nonsyndromic holoprosencephaly

Mutations in the PTCH1 gene are a rare cause of nonsyndromic holoprosencephaly, a condition where the brain fails to divide into two halves during early development. These mutations prevent the signaling necessary for normal brain and facial patterning.

Cancers

Somatic mutations (acquired during a person's lifetime) in both copies of the PTCH1 gene are associated with several cancers, including:

  • Basal cell carcinoma (a non-hereditary type of skin cancer)
  • Medulloblastoma (a childhood brain tumor)
  • Breast cancer
  • Colon cancer
  • Keratocystic odontogenic tumor (a benign jaw tumor)

Other Names for This Gene

  • BCNS
  • FLJ26746
  • FLJ42602
  • HPE7
  • NBCCS
  • patched
  • patched homolog 1 (Drosophila)
  • PTC
  • PTC1
  • PTC1_HUMAN
  • PTCH

Frequently Asked Questions

Treatment for Gorlin syndrome focuses on managing its various manifestations. Basal cell carcinomas are typically removed surgically, though topical therapies or oral medications like vismodegib (which targets the Sonic Hedgehog pathway) may be used for multiple or advanced lesions. Jaw cysts are surgically removed. Medulloblastoma, if it occurs, is treated with surgery and chemotherapy, avoiding radiation when possible. Regular monitoring and early intervention are key to managing the condition effectively.
Individuals with a PTCH1 mutation or Gorlin syndrome require lifelong surveillance. This typically includes annual dermatological exams for basal cell carcinomas, regular dental check-ups for jaw cysts, and imaging (such as MRI) to monitor for medulloblastoma in childhood and ovarian fibromas in females. Sun protection is crucial to reduce skin cancer risk, and radiation therapy is generally avoided due to increased risk of new cancers.
Gorlin syndrome is inherited in an autosomal dominant pattern. This means that if one parent has a PTCH1 mutation, each child has a 50% chance of inheriting the mutation and developing the syndrome. Genetic counseling is highly recommended for affected individuals and their families to discuss inheritance patterns, reproductive options, and the availability of prenatal or preimplantation genetic testing.
Early signs of Gorlin syndrome can include multiple basal cell carcinomas (often appearing in adolescence or early adulthood), jaw cysts (odontogenic keratocysts), small pits on the palms and soles, and skeletal abnormalities such as fused ribs or scoliosis. Distinctive facial features like a prominent forehead and widely spaced eyes may also be present from childhood. These findings, especially in combination, warrant genetic evaluation for a PTCH1 mutation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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