Aliases for ARV1 Gene
External Ids for ARV1 Gene
Previous GeneCards Identifiers for ARV1 Gene
this gene encodes 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 encephalopathy 38. [provided by RefSeq, Nov 2016]
GeneCards Summary for ARV1 Gene
ARV1 (ARV1 Homolog, Fatty Acid Homeostasis Modulator) is a Protein Coding gene. Diseases associated with ARV1 include Developmental And Epileptic Encephalopathy 38 and Congenital Disorder Of Glycosylation, Type Ip. Among its related pathways are Metabolism and Terpenoid backbone biosynthesis.
UniProtKB/Swiss-Prot Summary for ARV1 Gene
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).