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ELOVL4
ELOVL4
- 中文名称：
- ELOVL4
- 英文名称：
- ELOVL4
- 品牌：
- AAA Biotech
- 品牌介绍：
- AAA Biotech专注于为全球生命科学研究提供高品质的蛋白质研究工具，核心产品包括经严格验证的抗体、重组蛋白及ELISA试剂盒。
- 货号：
- AAA60515
- 规格：
- 0.05 mg|2x0.05 mg|3x0.05 mg|4x0.05 mg|5x0.05 mg
- 保存建议：
- Product should be stored at -20 degree C. Aliquot to avoid freeze/thaw cycles
Shipping Conditions: Ship at ambiant tempeture , freeze upon arrival.
- 货期：
- 6-8周
- 纯度：
- N/A
- 产品形式：
- Provided as solution in phosphate buffered saline with 0.08% sodium azide
- 免责声明：
- *本产品仅供科研实验使用，不得用于临床诊断。*
- 说明书：
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.
