Phosphatidylinositol Transfer Protein, Membrane Associated 3 (PITPNM3)

PITPNM3 encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.PITPNM3 shares structural features with other PITPNM family members, including an N-terminal acidic calcium-binding region, 6 transmembrane domains, and a conserved C-terminal domain, but it lacks the N-terminal phosphatidylinositol (PI) transfer domain.