PORCN

PORCN is a protein-coding gene located on the X chromosome in humans. It encodes a protein that is crucial for the post-translational modification of Wnt proteins, which are involved in various developmental processes. The PORCN gene is named after the Drosophila gene "porcupine," which is involved in the secretion of Wnt proteins.

Function

The PORCN protein is an O-acyltransferase that is responsible for the palmitoylation of Wnt proteins. This modification is essential for the proper secretion and signaling activity of Wnt proteins. Wnt proteins play a critical role in embryonic development, cell proliferation, and differentiation. They are involved in the regulation of cell fate determination, cell migration, and cell polarity.

Clinical Significance

Mutations in the PORCN gene are associated with a rare genetic disorder known as Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome. This condition is characterized by skin abnormalities, limb malformations, and other developmental defects. FDH is inherited in an X-linked dominant pattern, meaning that it primarily affects females, while males with the condition often do not survive.

Pathways

PORCN is involved in the Wnt signaling pathway, which is a complex network of proteins best known for their roles in embryogenesis and cancer. The pathway is divided into the canonical (β-catenin dependent) and non-canonical (β-catenin independent) pathways. PORCN-mediated palmitoylation is crucial for the activation of both pathways.

Research

Research on PORCN has focused on its role in Wnt signaling and its implications in developmental disorders and cancer. Inhibitors of PORCN are being investigated as potential therapeutic agents for diseases where Wnt signaling is aberrantly activated, such as certain types of cancer.

Also see

• Wnt signaling pathway
• Focal Dermal Hypoplasia
• O-acyltransferase
• Embryonic development