Aliases for PITPNM3 Gene
External Ids for PITPNM3 Gene
Previous HGNC Symbols for PITPNM3 Gene
Previous GeneCards Identifiers for PITPNM3 Gene
This gene 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.[provided by RefSeq, Sep 2009]
GeneCards Summary for PITPNM3 Gene
PITPNM3 (PITPNM Family Member 3) is a Protein Coding gene. Diseases associated with PITPNM3 include Cone-Rod Dystrophy 5 and Arteriovenous Malformations Of The Brain. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and receptor tyrosine kinase binding. An important paralog of this gene is PITPNM2.
UniProtKB/Swiss-Prot Summary for PITPNM3 Gene
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.