PTCHD2
Title: Unveiling the Role of PTCH2 Gene in Human Health and Disease
Introduction: The PTCH2 gene, a crucial component of the Hedgehog signaling pathway, plays a pivotal role in embryonic development and tissue homeostasis. Dysregulation of PTCH2 can lead to a spectrum of diseases, ranging from birth defects to lethal cancers.
Description: The PTCH2 gene encodes the protein patched homolog 2, a transmembrane receptor that binds to the Hedgehog proteins. Hedgehog signaling is essential for regulating cell growth, differentiation, and survival. PTCH2 acts as an inhibitor of this pathway, preventing excessive Hedgehog signaling.
Associated Diseases:
- Gorlin Syndrome: A rare genetic disorder characterized by multiple developmental abnormalities, including basal cell carcinomas, facial dysmorphism, and skeletal anomalies.
- Pallister-Killian Syndrome: Another rare genetic disorder that affects the limbs, face, and internal organs.
- Medulloblastoma: A type of cancerous tumor that occurs in the brain.
- Basal Cell Carcinoma: The most common type of skin cancer, which develops from basal cells in the epidermis.
- Ovarian Cancer: PTCH2 mutations have been linked to the development of ovarian cancer.
Did you Know ? Approximately 1 in 50,000 individuals is affected by Gorlin Syndrome, highlighting the rarity of PTCH2-related disorders.
