Background: Mutations in elongation of very long-chain fatty acid-4 (ELOVL4) are associated with autosomal dominant Stargardt-like macular degeneration (STGD3), with a five base-pair (5 bp) deletion mutation resulting in the loss of 51 carboxy-terminal amino acids and truncation of the protein. Elovl4 is expressed in the retina and only a limited number of mammalian other tissues, including skin, with unknown function. In a mouse model with the 5-bp deletion in the Elovl4 gene, mice in the heterozygous state (Elovl4(+/del)) demonstrate progressive photoreceptor degeneration. Homozygous mice (Elovl4(del/del)) display scaly, wrinkled skin, have severely compromised epidermal permeability barrier function, and die within a few hours after birth. Lipid analyses of epidermis from Elovl4(del/del) mice show a decrease in very long-chain fatty acids (VLFAs) in both the ceramide/glucosylceramide and the free fatty-acid fractions. ELOVL4 is required for generating VLFA critical for epidermal barrier function.
Positive Control: Expressed in the retina and at much lower level in the brain.
Immunogen: Synthetic peptdide derived from the human ELOV4 protein
Purification Method: Ammonium Sulfate Precipitation
Concentration: See vial for concentration
Formulation: Provided as solution in phosphate buffered saline with 0.08% sodium azide
References: 1: Kobayashi T, et al. ELOVL2 overexpression enhances triacylglycerol synthesis in 3T3-L1 and F442A cells. FEBS Lett. 2007 Jul 10;581(17):3157-63. Epub 2007 Jun 11. 2: DeAngelis MM, et al. Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol. 2007 Jan;125(1):49-54. 3: Vasireddy V, et al. Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death.Hum Mol Genet. 2007 Mar 1;16(5):471-82. Epub 2007 Jan 5. 4: Sridharan S, et al. X-ray crystal structure of Mycobacterium tuberculosis beta-ketoacyl acyl carrier protein synthase II (mtKasB). J Mol Biol. 2007 Feb 16;366(2):469-80. Epub 2006 Nov 7. 5: Seitsonen S, et al. Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. Mol Vis. 2006 Jul 20;12:796-801. 6: Jakobsson A, et al. Fatty acid elongases in mammals: their regulation and roles in metabolism. Prog Lipid Res. 2006 May;45(3):237-49. Epub 2006 Mar 6. Review. 7: Pleite R, et al. Inhibitors of fatty acid biosynthesis in sunflower seeds. J Plant Physiol. 2006 Sep;163(9):885-94. Epub 2006 Feb 28. 8: Kajikawa M, et al. Isolation and functional characterization of fatty acid delta5-elongase gene from the liverwort Marchantia polymorpha L. FEBS Lett. 2006 Jan 9;580(1):149-54. Epub 2005 Dec 6. 9: Koo AJ, et al. Identification of a plastid acyl-acyl carrier protein synthetase in Arabidopsis and its role in the activation and elongation of exogenous fatty acids. Plant J. 2005 Nov;44(4):620-32. 10: Zhang K., et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.; Nat. Genet. 27:89-93(2001).11: Edwards A.O., et al; A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.; Invest. Ophthalmol. Vis. Sci. 42:2652-2663(2001).
UniProt: Q9GZR5
Caution: This product is intended FOR RESEARCH USE ONLY, and FOR TESTS IN VITRO, not for use in diagnostic or therapeutic procedures involving humans or animals.
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