ALDH18A1 Antibody
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中文名稱：ALDH18A1兔多克隆抗體
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貨號：CSB-PA001564GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：
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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
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human ALDH18A1
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
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靶點詳情
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功能：Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.
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基因功能參考文獻：
- Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. PMID: 29915212
- 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
- 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
- Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. PMID: 26320891
- autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment PMID: 26026163
- 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
- expansion of the phenotypic spectrum associated with mutations in ALDH18A1 PMID: 21739576
- ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease. PMID: 20946940
- analysis of function and regulation of Delta1-pyrroline-5-carboxylate synthase PMID: 18401542
- 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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相關疾?。?/div>Cutis laxa, autosomal recessive, 3A (ARCL3A); Cutis laxa, autosomal dominant, 3 (ADCL3); Spastic paraplegia 9A, autosomal dominant (SPG9A); Spastic paraplegia 9B, autosomal recessive (SPG9B)亞細胞定位：Mitochondrion inner membrane.蛋白家族：Glutamate 5-kinase family; Gamma-glutamyl phosphate reductase family數據庫鏈接：
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