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ALDH3A2 Antibody

  • 中文名稱:
    ALDH3A2兔多克隆抗體
  • 貨號:
    CSB-PA001573GA01HU
  • 規(guī)格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    ALDH3A2; ALDH10; FALDH; Aldehyde dehydrogenase family 3 member A2; Aldehyde dehydrogenase 10; Fatty aldehyde dehydrogenase; Microsomal aldehyde dehydrogenase
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human ALDH3A2
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB,IHC,IF
  • Protocols:
  • 儲存條件:
    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.

產品評價

靶點詳情

  • 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.
  • 基因功能參考文獻:
    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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  • 相關疾病:
    Sjoegren-Larsson syndrome (SLS)
  • 亞細胞定位:
    Microsome membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.
  • 蛋白家族:
    Aldehyde dehydrogenase family
  • 組織特異性:
    Detected in liver (at protein level).
  • 數(shù)據(jù)庫鏈接:

    HGNC: 403

    OMIM: 270200

    KEGG: hsa:224

    STRING: 9606.ENSP00000345774

    UniGene: Hs.499886



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