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May act as a mediator of sterol homeostasis (Potential). De plus, nous expédions ARV1 Anticorps (16) et beaucoup plus de produits pour cette protéine.
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In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy
A novel function for Arv1 in regulation of cell division through promotion of the contractile actomyosin ring, which is independent of its lipid transporter activity.
Overexpression of human ARV1 could rescue the phenotypes associated with GPI (Montrer GNPDA1 Protéines) anchor synthesis defect in the yeast arv1Delta mutant. Arv1 function in GPI (Montrer GNPDA1 Protéines) biosynthesis may be conserved in all eukaryotes, from yeast to humans.
These results implicate ARV1 as a protective factor in lipotoxic diseases due to modulation of fatty acid metabolism.
ARV1 plays a role in sphingolipid metabolism and complements yeast ARV1
May act as a mediator of sterol homeostasis (Potential).
, protein ARV1