ELOVL4 Rabbit Polyclonal Antibody
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Specifications
Product Data | |
Applications | WB |
Recommended Dilution | Western Blot (1:400 starting dilution). |
Reactivities | Human |
Host | Rabbit |
Isotype | IgG |
Clonality | Polyclonal |
Immunogen | Synthetic peptdide derived from the human ELOV4 protein |
Specificity | This antibody detects ELOV4, expressed in the retina and at much lower level in the brain. |
Formulation | Phosphate buffered saline with 0.08% sodium azide State: Aff - Purified State: Liquid Ig fraction |
Concentration | lot specific |
Purification | Affinity chromatography |
Storage | Store the product (in aliquots) at -20 °C. Can be shipped at 2 - 8 °C. Avoid repeated freezing and thawing. |
Stability | Shelf life: One year from despatch. |
Gene Name | Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4) |
Database Link | |
Background | 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. |
Synonyms | ADMD; FLJ17667; FLJ92876; STGD2; STGD3 |
Reference Data | |
Protein Families | Transmembrane |
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