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 Epileptic Encephalopathy, Early Infantile, 38 and Yemenite Deaf-Blind Hypopigmentation Syndrome. 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).