ARV1
Description
The ARV1 (ARV1 homolog, fatty acid homeostasis modulator) is a protein-coding gene located on chromosome 1.
The ARV1 gene encodes a protein crucial for cell viability, involved in lipid trafficking. It's found in various eukaryotes, with yeast needing it for survival. Mice lacking ARV1 have reduced white adipose tissue and improved blood lipid profiles. ARV1 is linked to neurodevelopment, with a shortened version causing epileptic encephalopathy in infants. This is supported by observations in ARV1 knockout mice. Replacing the yeast gene with human ARV1 restores viability.
ARV1 plays a role in regulating cholesterol and bile acid levels in the endoplasmic reticulum (ER). It helps to transport sterols out of the ER and distribute them to the plasma membranes.
ARV1 is also known as DEE38, EIEE38.
