Aliases for PITPNA Gene
External Ids for PITPNA Gene
Previous HGNC Symbols for PITPNA Gene
Previous GeneCards Identifiers for PITPNA Gene
This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]
GeneCards Summary for PITPNA Gene
PITPNA (Phosphatidylinositol Transfer Protein Alpha) is a Protein Coding gene. Diseases associated with PITPNA include Cerebellar Ataxia, Cayman Type and Gillespie Syndrome. Among its related pathways are Netrin-1 signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include lipid binding and phosphatidylcholine transporter activity. An important paralog of this gene is PITPNB.
UniProtKB/Swiss-Prot Summary for PITPNA Gene
Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidylcholine (PC) between membranes (PubMed:10531358, PubMed:22822086, PubMed:15522822, PubMed:18636990, PubMed:14962392). Shows a preference for PI and PC containing shorter saturated or monosaturated acyl chains at the sn-1 and sn-2 positions (PubMed:15522822, PubMed:22822086). Preference order for PC is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 and for PI is C16:1 > C16:0 > C18:1 > C18:0 > C20:4 > C20:3 (PubMed:22822086).