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.[5] 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[6] Arv1-/- mice corroborate this observation.[6] In yeast knockouts, supplanting human ARV1 through plasmid transfection rescues cells from death.[7]
References
edit- ^ a b c GRCh38: Ensembl release 89: ENSG00000173409 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031982 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Lagor WR, Tong F, Jarrett KE, Lin W, Conlon DM, Smith M, Wang MY, Yenilmez BO, McCoy MG, Fields DW, O'Neill SM, Gupta R, Kumaravel A, Redon V, Ahima RS, Sturley SL, Billheimer JT, Rader DJ (October 2015). "Deletion of murine Arv1 results in a lean phenotype with increased energy expenditure". Nutrition & Diabetes. 5 (10): e181. doi:10.1038/nutd.2015.32. PMC 4631934. PMID 26479315.
- ^ a b Palmer EE, Jarrett KE, Sachdev RK, Al Zahrani F, Hashem MO, Ibrahim N, Sampaio H, Kandula T, Macintosh R, Gupta R, Conlon DM, Billheimer JT, Rader DJ, Funato K, Walkey CJ, Lee CS, Loo C, Brammah S, Elakis G, Zhu Y, Buckley M, Kirk EP, Bye A, Alkuraya FS, Roscioli T, Lagor WR (July 2016). "Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy". Human Molecular Genetics. 25 (14): 3042–3054. doi:10.1093/hmg/ddw157. PMC 5181598. PMID 27270415.
- ^ Swain E, Stukey J, McDonough V, Germann M, Liu Y, Sturley SL, Nickels JT (September 2002). "Yeast cells lacking the ARV1 gene harbor defects in sphingolipid metabolism. Complementation by human ARV1". The Journal of Biological Chemistry. 277 (39): 36152–60. doi:10.1074/jbc.m206624200. PMID 12145310.
Further reading
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