ELOVL Fatty Acid Elongase 4 (ELOVL4) Peptide
ELOVL4
Reactivité: Humain
Hôte: Lapin
BP
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- Antigène Tous les produits ELOVL4
- ELOVL4 (ELOVL Fatty Acid Elongase 4 (ELOVL4))
- Origine
- Humain
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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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- Antigène
- ELOVL4 (ELOVL Fatty Acid Elongase 4 (ELOVL4))
- Synonymes
- elovl4 Peptide, MGC122553 Peptide, ADMD Peptide, CT118 Peptide, ISQMR Peptide, STGD2 Peptide, STGD3 Peptide, elongation of very long chain fatty acids protein 4 Peptide, ELOVL fatty acid elongase 4 Peptide, elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 Peptide, CpipJ_CPIJ002114 Peptide, CpipJ_CPIJ003687 Peptide, CpipJ_CPIJ011025 Peptide, CpipJ_CPIJ013819 Peptide, ELOVL4 Peptide, elovl4 Peptide, Elovl4 Peptide
- 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.
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