ELOVL4 Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	WB
Recommend Dilution	Western Blot (1:400 starting dilution).
Reactivity	Human
Host	Rabbit
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
Conjugation	Unconjugated
Storage Condition	Store the product (in aliquots) at -20 °C. Can be shipped at 2 - 8 °C. Avoid repeated freezing and thawing.
Gene Name	ELOVL fatty acid elongase 4
Database Link	Entrez Gene 6785 Human UniProt ID Q9GZR5
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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