ARV1

ARV1 is a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopath

Full Name

ARV1 Homolog, Fatty Acid Homeostasis Modulator

Function

Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892).
Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892).

Biological Process

Cholesterol biosynthetic process Source: Reactome
Intracellular sterol transport Source: GO_Central
Regulation of cholesterol metabolic process Source: UniProtKB
Regulation of intracellular cholesterol transport Source: UniProtKB
Regulation of plasma membrane sterol distribution Source: GO_Central
Sphingolipid metabolic process Source: GO_Central
Sterol metabolic process Source: GO_Central

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Developmental and epileptic encephalopathy 38 (DEE38): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE38 inheritance is autosomal recessive.