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  4. Recombinant Human Monoacylglycerol lipase ABHD12 (ABHD12), partial

Recombinant Human Monoacylglycerol lipase ABHD12 (ABHD12), partial

  • 货号：
    CSB-YP839785HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP839785HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP839785HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP839785HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP839785HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    ABHD12
  • Uniprot No.：
  • 别名：
    2-arachidonoylglycerol hydrolase; 6330583M11Rik; ABD12_HUMAN; ABHD12; ABHD12A; Abhydrolase domain containing protein 12; Abhydrolase domain-containing protein 12; AI431047; AW547313; BEM46L2; C20orf22; Monoacylglycerol lipase ABHD12; RP23-241M12.2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    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.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    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 ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system. Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding.
  • 基因功能参考文献：
    1. This study presented the various mutation of ABHD12 responsible for PHARC syndrome. PMID: 28448692
    2. Study identified a new missense mutation, p.T253R, in ABHD12, which is functionally linked to the neurodegenerative disease PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), as demonstrated by its deactivation of monoacylglycerol lipase activity and inability to rescue zebrafish abhd12 knockdown phenotypes. PMID: 27890673
    3. ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems. PMID: 25743180
    4. Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. PMID: 24697911
    5. This is the first report of compound heterozygosity in PHARC and the first study to describe how a mutation might affect ABHD12 expression and function. PMID: 24027063
    6. ABHD12 mutations are not a frequent cause of ataxia at least in Southern Italy PMID: 23490117
    7. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy PMID: 22938382
    8. Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol. PMID: 22969151
    9. Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease. PMID: 20797687

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  • 相关疾病：
    Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Single-pass membrane protein.
  • 蛋白家族：
    Serine esterase family
  • 数据库链接：

    HGNC: 15868

    OMIM: 612674

    KEGG: hsa:26090

    STRING: 9606.ENSP00000365725

    UniGene: Hs.441550