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ALDH18A1 Antibody

  • 中文名稱：
    ALDH18A1兔多克隆抗體
  • 貨號：
    CSB-PA001564GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    ALDH18A1
  • 別名：
    2810433K04Rik antibody; AI429789 antibody; Aldehyde dehydrogenase 18 family member A1 antibody; Aldehyde dehydrogenase 18A1 antibody; Aldehyde dehydrogenase family 18 member A1 antibody; ALDH18A1 antibody; Delta 1 pyrroline 5 carboxylate synthetase antibody; Delta1 pyrroline 5 carboxlate synthetase antibody; Gamma-glutamyl kinase antibody; Gamma-glutamyl phosphate reductase antibody; GK antibody; Glutamate-5-semialdehyde dehydrogenase antibody; Glutamyl-gamma-semialdehyde dehydrogenase antibody; GPR antibody; GSAS antibody; MGC117316 antibody; MGC32233 antibody; P5CS antibody; P5CS_HUMAN antibody; PYCS antibody; Pyrroline 5 carboxylate synthetase (glutamate gamma semialdehyde synthetase) antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human ALDH18A1
  • 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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB
  • 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.

產(chǎn)品評價

靶點詳情

  • 功能：
    Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.
  • 基因功能參考文獻(xiàn)：
    1. Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. PMID: 29915212
    2. This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families. PMID: 28228640
    3. ALDH18A1 gene during vertebrate and invertebrate evolution and a proposal for generating the bifunctional vertebrate and invertebrate ALDH18A1 gene from a bacterial operon (proBA) encoding glutamyl kinase and glutamyl phosphate reductase. PMID: 27989597
    4. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. PMID: 26320891
    5. autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment PMID: 26026163
    6. A frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, respectively, in a homozygous state in both patients, was identified. PMID: 24913064
    7. expansion of the phenotypic spectrum associated with mutations in ALDH18A1 PMID: 21739576
    8. ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease. PMID: 20946940
    9. analysis of function and regulation of Delta1-pyrroline-5-carboxylate synthase PMID: 18401542
    10. These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function. PMID: 18478038

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  • 相關(guān)疾病：
    Cutis laxa, autosomal recessive, 3A (ARCL3A); Cutis laxa, autosomal dominant, 3 (ADCL3); Spastic paraplegia 9A, autosomal dominant (SPG9A); Spastic paraplegia 9B, autosomal recessive (SPG9B)
  • 亞細(xì)胞定位：
    Mitochondrion inner membrane.
  • 蛋白家族：
    Glutamate 5-kinase family; Gamma-glutamyl phosphate reductase family
  • 數(shù)據(jù)庫鏈接：

    HGNC: 9722

    OMIM: 138250

    KEGG: hsa:5832

    STRING: 9606.ENSP00000360268

    UniGene: Hs.500645