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  4. Recombinant Human Aldehyde dehydrogenase family 3 member A2 (ALDH3A2)

Recombinant Human Aldehyde dehydrogenase family 3 member A2 (ALDH3A2)

  • 货号：
    CSB-CF001573HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    ALDH3A2
  • Uniprot No.：
  • 别名：
    ALDH3A2; ALDH10; FALDH; Aldehyde dehydrogenase family 3 member A2; Aldehyde dehydrogenase 10; Fatty aldehyde dehydrogenase; Microsomal aldehyde dehydrogenase
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-485
  • 氨基酸序列
    MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVTAKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLYIVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLVKAEYY
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

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