ELOVL4Catalog number: X2382B
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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.
Synonyms: Elongation of very long chain fatty acids protein 4, ELOV4
Immunogen: Synthetic peptdide derived from the human ELOV4 protein
Product Form: Unconjugated
Formulation: Provided as solution in phosphate buffered saline with 0.08% sodium azide
Concentration: See vial for concentration
For use with ELOV4 polyclonal antibodies (Cat. No. X2087P & X2381P).
Functional Analysis: Western Blotting
Positive Control: Expressed in the retina and at much lower level in the brain.
Product should be stored at -20ºC. Aliquot to avoid freeze/thaw cycles
Product Stability: See expiration date on vial
Shipping Conditions: Ship at ambient temperature, freeze upon arrival
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. It may contain hazardous ingredients. Please refer to the Safety Data Sheets (SDS) for additional information and proper handling procedures. Dispose product remainders according to local regulations.This datasheet is as accurate as reasonably achievable, but Exalpha Biologicals accepts no liability for any inaccuracies or omissions in this information.
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).
Database Name: UniProt
Accession Number: Q9GZR5 (Human)
Species Accession: Human
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