Fatty acids elongation
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. The ELOVL4 antibodies were generated against three epitopes from the N-terminus, a mid-region and one form the C-terminal end of the ELOVL4 protein. Anti-ELOVL4 antibodies were generated against KLH conjugated peptides that are unique to only ELOVL protein. These polyclonal antibodies label a 37-39 kDa protein in RPE cell extracts. Anti-ELOVL4-selective antibodies are also available in affinity-purified form for confocal, Western blotting and immunocytochemical analyses. FabGennix Inc. will also conjugate antibodies with fluorescent probes upon request at extra charge. FabGennix Inc. also provides antibodies against proteins that are involved in retinal degenerative diseases such as various Anti-PDE antibodies, Anti-EFEMP1, Anti-Orphan receptor G-75; Anti-Bestrophin, Anti-Myocilin (TIGR) and a Usher syndrome specific Anti-USH2a antibody. FabGennix Inc employs cyclic peptide methodology for generating antibodies, which results in higher titer and specificity (6). FabGennix, Inc., will also provide Western blot positive controls for most of these antibodies in ready-to-use buffer for easy identification of respective proteins. Limited quantities of antigens are also available. Please enquire for their availability before ordering.
For research use only, not for diagnostic or therapeutic use.
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