ARV1 fatty acid homeostasis modulator (ARV1)

ARV1 fatty acid homeostasis modulator (ARV1) is a conserved transmembrane protein containing a zinc ribbon motif at the N-terminus. It is believed to act as a lipid transporter or scramblase within the endoplasmic reticulum, regulating cholesterol and fatty acid homeostasis, as well as the asymmetry and trafficking of membrane lipids. ARV1 plays roles in glycosyl-phosphatidylinositol anchor biosynthesis, cellular stress response (especially unfolded protein response), and is essential for proper metabolic function. Loss-of-function mutations in ARV1 are associated with severe neurodevelopmental disorders such as early infantile epileptic encephalopathy (DEE38/EIEE38), and studies in animal models indicate influence over obesity, insulin sensitivity, and cholesterol metabolism. No drugs are known to directly target ARV1, but its role in fundamental lipid metabolism and neurological health positions it as a potential target for future investigation.

Other names

ARV1Protein ARV1ARV1 homologHT035hARV1DEE38EIEE38

Not applicable; no direct pharmacological modulators yet identified