DISEASES

Disease-gene associations mined from literature

Literature associating ARV1 and early infantile epileptic encephalopathy 38

ARV1 [ENSP00000312458]

ARV1 homolog (S. cerevisiae); Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis. Participates in sterol transport out of the ER and distribution into plasma membranes.

Synonyms:  ARV1,  ARV1p,  hARV1,  A0A024R3V6,  F6QB42 ...

Linkouts:  STRING  Pharos  UniProt  OMIM