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ALDH3A2 Antibody

  • 货号：
    CSB-PA033785
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human prostate cancer tissue using CSB-PA033785(ALDH3A2 Antibody) at dilution 1/20, on the right is treated with fusion protein. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human colorectal cancer tissue using CSB-PA033785(ALDH3A2 Antibody) at dilution 1/20, on the right is treated with fusion protein. (Original magnification: ×200)
    • Gel: 6%SDS-PAGE, Lysate: 40 μg, Lane 1-2: Human fetal liver and normal liver tissue, Primary antibody: CSB-PA033785(ALDH3A2 Antibody) at dilution 1/250 dilution, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 10 seconds
  • 其他：

产品详情

  • Uniprot No.：
    P51648
  • 基因名：
    ALDH3A2
  • 别名：
    ALDH3A2; ALDH10; FALDH; Aldehyde dehydrogenase family 3 member A2; Aldehyde dehydrogenase 10; Fatty aldehyde dehydrogenase; Microsomal aldehyde dehydrogenase
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Fusion protein of Human ALDH3A2
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    WB 1:500-1:2000
    IHC 1:25-1:100
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.
  • 基因功能参考文献：
    1. Homozygous ALDH3A2 mutations exhibited an unusual neuro-regressive clinical course associated with seizures in Sjogren-Larsson syndrome patients, which may reflect the presence of unidentified genetic or environmental modifiers in this consanguineous population. PMID: 29183715
    2. In female infertility, ALDH3A2 expression levels were higher in patients greater than 40 years of age and in poor responders compared to oocyte donors. PMID: 26449735
    3. Sjogren-Larsson syndrome belongs to a new group of inborn-errors-of-metabolism with inherited defects in phospholipids, sphingolipids and fatty-acids biosynthesis. It is caused by ALDH3A2 gene mutations. PMID: 25532748
    4. A previously unreported novel ALDH3A2 mutation was identified, c.681-14T>G, in a Sjogren-Larsson syndrome patient (homozygote) and his asymptomatic parents (heterozygotes). PMID: 24377952
    5. The gatekeeper helix domain is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. PMID: 25047030
    6. Sjogren-Larsson Syndrome patients with ALDH3A2 mutations exhibit retinal disease in retinal cell layers PMID: 25784589
    7. variation in the neurologic phenotype of Sjogren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or a biochemical defect, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms. PMID: 23034980
    8. Five unrelated patients with typical Sjogren-Larsson syndrome all present mutations in the ALDH3A2 gene. PMID: 21872273
    9. the Sjogren-Larsson syndrome-causative gene ALDH3A2 is responsible for conversion of the sphingosine 1-phosphate degradation product hexadecenal to hexadecenoic acid PMID: 22633490
    10. We studied three Turkish Sjogren-Larsson syndrome patients One patient was homozygous for a novel ALDH3A2 mutation in exon 5. The mutation involves the codon 228 (CGC) with the transversion G->A modifying the codon in CAC. PMID: 22397046
    11. We describe 2 Sjogren-Larsson syndrome patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2. PMID: 21684788
    12. SLS is caused by mutation in the ALDH3A2 gene, which encodes for FALDH, an enzyme that catalyzes the oxidation of medium- and long-chain aliphtic aldehydes. PMID: 21524986
    13. The present results suggest that ALDH3A2 is a gene responsible for Sjogren-Larsson syndrome in Asian populations. PMID: 20883264
    14. Fibroblasts of patients affected by Sjogren Larsson syndrome were found to be deficient in microsomal fatty aldehyde dehydrogenase. PMID: 15110319
    15. seven novel ALDH3A2 mutations and their associated haplotypes envolved in Sjogren-Larsson Syndrome were identified in 13 patients and one fetus. PMID: 15241804
    16. REVIEW: mutation update of Sjogren-Larsson syndrome PMID: 15931689
    17. We report novel compound heterozygous mutations in ALDH3A2 in a Japanese family with Sjogren-Larsson syndrome. PMID: 16794583
    18. Minireview summarizes recent advances in the molecular genetics of fatty aldehyde dehydrogenase (FALDH) deficiency and the biochemical pathogenesis of Sjogren-Larsson syndrome. PMID: 16996289
    19. FALDH variants are produced by alternative splicing and share an important role in protecting against oxidative stress in an organelle-specific manner. PMID: 17510064
    20. These results add to understanding of the genetic basis of Sjogren-Larsson syndrome. PMID: 17902024
    21. FALDH deficiency in keratinocytes from patients with Sjogren-Larsson syndrome causes accumulation and diversion of fatty alcohol into alternative biosynthetic pathways. PMID: 17971613
    22. Mutational analysis identified compound heterozygous mutations in each allele of fatty aldehyde dehydrogenase gene, confirming Sjogren-Larsson syndrome. PMID: 17998529
    23. A structural model of FALDH has been constructed, and catalytically important residues have been proposed to be involved in alcohol and aldehyde oxidation: Gln-120, Glu-207, Cys-241, Phe-333, Tyr-410 and His-411. PMID: 18035827

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  • 相关疾病：
    Sjoegren-Larsson syndrome (SLS)
  • 亚细胞定位：
    Microsome membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.
  • 蛋白家族：
    Aldehyde dehydrogenase family
  • 组织特异性：
    Detected in liver (at protein level).
  • 数据库链接：

    HGNC: 403

    OMIM: 270200

    KEGG: hsa:224

    STRING: 9606.ENSP00000345774

    UniGene: Hs.499886