Phospholipid transfer protein C2CD2L (C2CD2L)

Phospholipid transfer protein C2CD2L (commonly known as TMEM24) is a transmembrane lipid-transport protein that localizes to the endoplasmic reticulum (ER), where it functions as both a tether and a transporter of phosphatidylinositol at ER–plasma membrane junctions. It enables transport of phosphatidylinositol—critical for plasma membrane phosphoinositide pools—supporting processes such as insulin secretion in pancreatic β-cells and calcium signaling in neurons. C2CD2L is anchored in the ER membrane with an N-terminal transmembrane domain, followed by an SMP (synaptotagmin-like mitochondrial-lipid binding) domain, a C2 domain, and a C-terminal polybasic motif that mediates plasma membrane association. It is regulated by calcium-dependent phosphorylation, which drives redistribution within the ER. C2CD2L is primarily expressed in neurons and the endocrine pancreas, and defects or mutations in this gene are associated with human diseases including developmental and epileptic encephalopathy and cerebellar ataxia. To date, there are no known direct drug interactions for this target, and it is not considered a traditional therapeutic target like a receptor or enzyme[1][2][3].

Other names

C2CD2 likeC2CD2LKIAA0285TMEM24C2 domain-containing protein 2-likeTransmembrane protein 24DLNB23