Long description 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.
Antibody come from Synthetic peptide derived from human CALHM1 protein.
Other description Provided as solution in phosphate buffered saline with 0.08% sodium azide.
Antibody's reacts with these species This antibody doesn't cross react with other species
Antibody's specificity No Data Available
Application Western Blot
Antibody's suited for Antibody can be used for Western blotting (1-5 µg/ml). Optimal concentration should be evaluated by serial dilutions.
Relevant references 1. Dreses-Werringloer, U., et la. A Polymorphism in CALHM1 Influences Ca2+ Homeostasis, Ab Levels, and AlzheimerÕs Disease Risk. Cell 2008, 133, 1149-1161_x000B__x000B_2. Bertram, L., et al. 'No association between CALHM1 and AlzheimerÕs disease risk.' Cell 2008, 135(6), 993-994._x000B__x000B_3. Cui, P.J., et al. 'CALHM1 P86L polymorphism is a risk for AlzheimerÕs Disease in the Chinese population.' J. Alzheimers Dis. 2009, Epub ahead of
Protein number see ncbi
Warnings 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. This datasheet is as accurate as reasonably achievable, but Nordic-MUbio accepts no liability for any inaccuracies or omissions in this information.
Test You can block the antibody by the specific target amino acid sequence of peptide.