ARV1 gene

ARV1 homolog, fatty acid homeostasis modulator

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 38

From UniProt:

Epileptic encephalopathy, early infantile, 38 (EIEE38): 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. EIEE38 inheritance is autosomal recessive. [MIM:617020]

Cytogenetic Location: 1q42.2, which is the long (q) arm of chromosome 1 at position 42.2

Molecular Location: base pairs 230,979,075 to 231,000,733 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.2, which is the long (q) arm of chromosome 1 at position 42.2
  • EIEE38