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ABHD12 Antibody

  • 货号：
    CSB-PA589699
  • 规格：
    ￥2024
  • 图片：
    • Western blot analysis of extracts from COLO cells, using ABHD12 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) ABHD12 Polyclonal antibody
  • Uniprot No.：
    Q8N2K0
  • 基因名：
    ABHD12
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from internal of Human ABHD12.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:3000
  • 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：
    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