ELOVL Fatty Acid Elongase 4 (ELOVL4) Peptide
ELOVL4
Reactivité: Humain
Hôte: Lapin
BP
N° du produit ABIN2763828
Aperçu rapide pour ELOVL Fatty Acid Elongase 4 (ELOVL4) Peptide (ABIN2763828)
Antigène
ELOVL4
(ELOVL Fatty Acid Elongase 4 (ELOVL4))
Origine
Humain
Source
Lapin
Application
Blocking Peptide (BP)
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Restrictions
- For Research Use only
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Stock
- -20 °C
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- ELOVL4 (ELOVL Fatty Acid Elongase 4 (ELOVL4))
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Sujet
- 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.
Antigène
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