Biology:ARV1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Acyl-coA acyltransferase-related enzyme 2 required for viability is a protein that in humans is encoded by the ARV1 gene. It is involved in lipid trafficking. ARV1 is ubiquitously expressed in higher eukaryotes, and in Saccharomyces cerevisiae yeast, is required for viability. Arv1-/- knockout mice display a phenotype with reduced white adipose and favorable blood lipid profiles on a chow diet.[1] ARV1 is hypothesized to be involved in neurodevelopment, as a splice variant of ARV1 with a 40 amino acid truncation causes epileptic encephalopathy in infants.d[2] Arv1-/- mice corroborate this observation.[2] In yeast knockouts, supplanting human ARV1 through plasmid transfection rescues cells from death.[3]
References
- ↑ "Deletion of murine Arv1 results in a lean phenotype with increased energy expenditure". Nutrition & Diabetes 5 (10): e181. October 2015. doi:10.1038/nutd.2015.32. PMID 26479315.
- ↑ 2.0 2.1 "Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy". Human Molecular Genetics 25 (14): 3042–3054. July 2016. doi:10.1093/hmg/ddw157. PMID 27270415.
- ↑ "Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1". The Journal of Biological Chemistry 277 (39): 36152–60. September 2002. doi:10.1074/jbc.m206624200. PMID 12145310.
Further reading
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