ELOVL4 antibody

Principal name

ELOVL4 antibody

Alternative names for ELOVL4 antibody

Elongation of very long chain fatty acids protein 4, 3-keto acyl-CoA synthase ELOVL4

SwissProt ID

Q9EQC4 (Mouse), Q9GZR5 (Human)

Gene ID

6785 (ELOVL4), 83603 (Elovl4)

Available reactivities

Hu (Human), Ms (Mouse), Rt (Rat), Mky (Monkey)

Available hosts

Mouse, Rabbit

Available applications

Enzyme Immunoassay (E), Western blot / Immunoblot (WB)

Background of ELOVL4 antibody

Autosomal dominant Stargardt-like macular dystrophy (STGD3) is one of the early onset macular dystrophies. STGD3 and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks (1). STGD3 and adMD share phenotypic characters with atrophic age-related macular degeneration (AMD). Mutations in a photoreceptor cell-specific factor involved in the elongation of very long chain fatty acids (ELOVL4) were shown to be linked with STGD(3), adMD, and other pattern dystrophy. The ELOVL4 gene is homologous to mammalian and yeast enzymes involved in the membrane-bound fatty acid chain elongation system (1). Bioinformatic and proteomic analysis of ELOVL4 revealed that it has homology to a group of yeast proteins that function in the biosynthesis of very long chain fatty acids. ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy. A 5-bp mutation in this gene has been associated with Stargardt-like acular degeneration (STGD). There has been several sequence variation in the ELVL4 gene in AMD. These variations include 8 variations in the coding region for ELOVL4 protein and 4 in the non-coding region (1). Recently a second mutation in the ELOVL4 gene segregating with macular dystrophy phenotypes confirms the role of this gene in a subset of dominant macular dystrophies with a wide range of clinical expressions and suggests a role for modifying genes and/or environmental factors in AMD disease process. (2) It has been suggested that alterations in the biosynthesis of fatty acids may be implicated in the pathogenesis of inherited macular degeneration.
The ELOVL4 protein is a 38-39 kDa protein expressed in RPEs.

General readings

Kasperaviciute, D., et al. Brain 133 (PT 7), 2136-2147 (2010)
Vasireddy, V., et al. Prog Retin Eye Res 29(3):191-207(2010)
Gu, H., et al. Zhonghua Yan Ke Za Zhi 46(2):125-128(2010)
DeAngelis, M.M., et al. Arch. Ophthalmol. 125(1):49-54(2007)
McMahon, A., et al. Mol. Vis. 13, 258-272 (2007).

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ELOVL4 (C-term) Antikörper

Western blot analysis of ELOVL4 Antibody (C-term) Cat.-No AP51420PU-N in 293 cell line lysates (35ug/lane). This demonstrates the ELOVL4 antibody detected the ELOVL4 protein (arrow). Rabbit Ig Aff - Purified Hu WB
0.4 ml / 415,00 €
  OriGene Technologies GmbH

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