ELOVL4 Antibody, Biotin conjugated

說(shuō)明書(shū)

中文名稱(chēng)：

ELOVL4兔多克隆抗體, Biotin偶聯(lián)
貨號(hào)：

CSB-PA880925LD01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)品名稱(chēng)：

Rabbit anti-Homo sapiens (Human) ELOVL4 Polyclonal antibody
Uniprot No.：

Q9GZR5
基因名：

ELOVL4
別名：

ELOVL4; Elongation of very long chain fatty acids protein 4; 3-keto acyl-CoA synthase ELOVL4; ELOVL fatty acid elongase 4; ELOVL FA elongase 4; Very long chain 3-ketoacyl-CoA synthase 4; Very long chain 3-oxoacyl-CoA synthase 4
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Elongation of very long chain fatty acids protein 4 protein (270-314AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

Biotin
克隆類(lèi)型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA
Protocols：

ELISA Protocol
儲(chǔ)存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of very long chain saturated (VLC-SFA) and polyunsaturated (PUFA) fatty acids that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May play a critical role in early brain and skin development.
基因功能參考文獻(xiàn)：
1. A highly reduced activity of the ELOVL4 promoter was registered due to combination of two variants. Decrease of ELOVL4 enzymatic activity could lead to a deficiency of VLC-PUFA, essential components for rods function and longevity, which are among the parameters involved in the etiopathogenesis of stargardt disease. PMID: 29417145
2. Normalization of retinal ELOVL4 expression could prevent blood-retinal barrier dysregulation in diabetic retinopathy through an increase in very long-chain ceramides and stabilization of tight junctions. PMID: 29362226
3. Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene PMID: 27116512
4. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis. PMID: 27813578
5. In patients with intrahepatic cholestasis of pregnancy, there was no elevation in ELOVL4 mRNA in maternal circulation compared with controls. PMID: 25059952
6. Both ELOVL4- and PROM1-related maculopathies are characterized by progressive photoreceptor atrophy and central vision loss. Using advanced diagnostic imaging, early disease changes and disease progression can be characterized. PMID: 26110599
7. different mutations in ELOVL4 can cause variable phenotypic neurological disorders (Review) PMID: 26427403
8. Spinocerebellar ataxia was associated with a novel mutation in ELOVL4 in a large family pedigree. PMID: 26010696
9. In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis. PMID: 24664730
10. We propose that transgenic expression of ELOVL4 in the liver will result in the biosynthesis of very long chain-PUFA that can be transported to target. PMID: 24664752
11. ELOVL4 is identified as the causative gene for erythrokeratodermia variabilis and spinocerebellar ataxia in a French-Canadian family. PMID: 24566826
12. A novel homozygous nonsense mutation in ELOVL4 cuases a neuro-ichthyotic disorder with variable expressivity. PMID: 24571530
13. Coexpression of different forms of wild-type and mutant ELOVL4 revealed a large dominant-negative effect of mutant protein on ELOVL4 localization and enzymatic activity, resulting in reduced VLC-PUFA synthesis. PMID: 23509295
14. 5 single nucleotide polymorphisms (SNPs: rs3812153, rs7764439, rs390659, rs434102 and c:929G>A) were detected in ELOVL4. PMID: 22948568
15. Mutation in ELOVL4 gene is associated with Stargardt Disease. PMID: 22863181
16. recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease PMID: 22100072
17. Not only the ELOVL4-ELOVL4DeltaC homo-oligomeric interaction, but also several hetero-oligomeric interactions, may contribute to the pathology of Stargardt disease 3. PMID: 21139992
18. There was no association between the M299V variant in ELOVL4 gene and exudative age-related macular degeneration in a Chinese population. PMID: 20388345
19. Pathogenic mutations found in the ELOVL4 gene result in altered trafficking of the protein and behave with a dominant negative effect. PMID: 20096366
20. Recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene. PMID: 12592226
21. The ELOVL4 gene is highly conserved throughout evolution and is expressed in the photoreceptor cells of the retina in a variety of different species PMID: 12824221
22. DNA sequence analysis showed a 5-bp deletion in exon 6 of the ELOVL4 gene, confirming the diagnosis of autosomal dominant Stargardt-like macular dystrophy. PMID: 12967813
23. mutations in ELOVL4 result in the intracellular misrouting of the protein in macular degeneration PMID: 15028284
24. ELOVL4 contributes to the autosomal dominant inheritance of Stargardt-like macular dystrophy PMID: 16036915
25. analysis of non-pathogenic polymorphisms in the ELOVL4 in Chinese patients with autosomal dominant STGD3-like macular dystrophy PMID: 16364203
26. This study demonstrates that dietary factors can influence the severity of an inherited human macular dystrophy. PMID: 16476896
27. No association with AMD was detected with Met299Val polymorphism in the ELOVL4 gene in the familial or sporadic cases compared to non-AMD or blood donor controls. PMID: 16885922
28. Role for Elovl4 in acylceramide synthesis, and in particular, a role in the synthesis of the unique very long chain C30-C40 fatty acids present in skin acylceramides. PMID: 17356513
29. mutational analysis shows ELOVL4 is not involved in the pathogenesis of RP25 PMID: 11474659
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相關(guān)疾病：

Stargardt disease 3 (STGD3); Ichthyosis, spastic quadriplegia, and mental retardation (ISQMR); Spinocerebellar ataxia 34 (SCA34)
亞細(xì)胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein.
蛋白家族：

ELO family, ELOVL4 subfamily
組織特異性：

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.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 14415

OMIM: 133190

KEGG: hsa:6785

STRING: 9606.ENSP00000358831

UniGene: Hs.101915

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