Rabbit anti-Human ELOVL4 Polyclonal Antibody | anti-ELOVL4 antibody

ELOVL4

Cat. Num. AAA395920

• Gene Names: ELOVL4; ADMD; CT118; ISQMR; STGD2; STGD3
• Reactivity: Human
• Applications: Western Blot
• Purity: Ammonium Sulfate Precipitation
• Synonyms: ELOVL4; Polyclonal Antibody; Elongation of very long chain fatty acids protein 4; ELOV4; anti-ELOVL4 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Ammonium Sulfate Precipitation
• Form/Format: Provided as solution in phosphate buffered saline with 0.08% sodium azide
• Sequence Length: 314

• Applicable Applications for anti-ELOVL4 antibody: Western Blot (WB)
• Immunogen: Synthetic peptdide derived from the human ELOV4 protein
• Positive Control: Expressed in the retina and at much lower level in the brain.
• Preparation and Storage: Product should be stored at -20 degree C. Aliquot to avoid freeze/thaw cycles

Related Product Information for anti-ELOVL4 antibody

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.

Product Categories/Family for anti-ELOVL4 antibody

Polyclonal Antibody; Neurodegenerative

NCBI and Uniprot Product Information

• NCBI GI #: 12232379
• NCBI GeneID: 6785
• NCBI Accession #: NP_073563.1
• NCBI GenBank Nucleotide #: NM_022726.3
• UniProt Accession #: Q9GZR5; Q5TCS2; Q86YJ1; Q9H139; B2R6B5
• Molecular Weight: 36829
• NCBI Official Full Name: elongation of very long chain fatty acids protein 4
• NCBI Official Synonym Full Names: ELOVL fatty acid elongase 4
• NCBI Official Symbol: ELOVL4
• NCBI Official Synonym Symbols: ADMD; CT118; ISQMR; STGD2; STGD3
• NCBI Protein Information: elongation of very long chain fatty acids protein 4; ELOVL FA elongase 4; cancer/testis antigen 118; 3-keto acyl-CoA synthase ELOVL4; Stargardt disease 3 (autosomal dominant); very-long-chain 3-oxoacyl-CoA synthase 4; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4
• UniProt Protein Name: Elongation of very long chain fatty acids protein 4
• Protein Family: Elongation of very long chain fatty acids protein
• UniProt Gene Name: ELOVL4
• UniProt Synonym Gene Names: ELOVL FA elongase 4
• UniProt Entry Name: ELOV4_HUMAN

NCBI Description

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

Uniprot Description

Function: Condensing enzyme that elongates saturated and monounsaturated very long chain fatty acids (VLCFAs). Elongates C24:0 and C26:0 acyl-CoAs. Seems to represent a photoreceptor-specific component of the fatty acid elongation system residing on the endoplasmic reticulum. May be implicated in docosahexaenoic acid (DHA) biosynthesis, which requires dietary consumption of the essential alpha-linolenic acid and a subsequent series of three elongation steps. May play a critical role in early brain and skin development. Ref.8 Ref.9

Catalytic activity: A very-long-chain acyl-CoA + malonyl-CoA = CoA + a very-long-chain 3-oxoacyl-CoA + CO2.

Subunit structure: Oligomer. Ref.7

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.7 Ref.8.

Tissue specificity: Expressed in the retina and at much lower level in the brain. Ubiquitous, highest expression in thymus, followed by testis, small intestine, ovary, and prostate. Little or no expression in heart, lung, liver, or leukocates. Ref.8

Domain: The di-lysine motif may confer endoplasmic reticulum localization

By similarity.

Involvement in disease: Stargardt disease 3 (STGD3) [MIM:600110]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR) [MIM:614457]: A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9

Sequence similarities: Belongs to the ELO family.