CLN8 Antibody, HRP conjugated
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中文名称：CLN8兔多克隆抗体, HRP偶联
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货号：CSB-PA866210LB01HU
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规格：￥880
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其他：
产品详情
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产品名称：Rabbit anti-Homo sapiens (Human) CLN8 Polyclonal antibody
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Uniprot No.：
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基因名：CLN8
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别名：CLN8; C8orf61; Protein CLN8
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宿主：Rabbit
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反应种属：Human
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免疫原：Recombinant Human Protein CLN8 protein (247-286AA)
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免疫原种属：Homo sapiens (Human)
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标记方式：HRP
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克隆类型：Polyclonal
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抗体亚型：IgG
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纯化方式：>95%, Protein G purified
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浓度：It differs from different batches. Please contact us to confirm it.
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保存缓冲液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
产品提供形式：Liquid
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应用范围：ELISA
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Protocols：
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储存条件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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靶点详情
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功能：Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.
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基因功能参考文献：
- CLN8 recruits lysosomal soluble proteins in the endoplasmic reticulum (ER), delivers them to the Golgi apparatus via COPII-coated vesicles, and recycles back to the ER via COPI-coated vesicles. CLN8 interacts with the lysosomal soluble proteins through its large luminal loop. The export signal of CLN8 (261VDWNF265) is localized in its cytosolic C-terminus. CLN8 deficiency results in depletion of enzymes at the lysosome. PMID: 30397314
- Whole-exome sequencing and homozygosity mapping revealed a novel homozygous CLN8 mutation, c.677T>C (p.Leu226Pro in 5 relatives from a large Turkish consanguineous family PMID: 27844444
- Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis PMID: 26443629
- This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population. PMID: 26657971
- This study highlights a close interaction between CLN5/CLN8 proteins, and their role in sphingolipid metabolism. Our findings suggest that CLN5p/CLN8p most likely are positive modulators of CerS1 and/or CerS2. PMID: 23160995
- A missense mutation at the CLN8 gene (763C>G)has been identified in 3 consanguineous Israeli-Arab patients. The phenotype in 2 of them is milder than that of their cousin who has typical neuronal ceroid lipofuscinosis. PMID: 22964447
- CLN8 is a candidate modifier gene for GD1. Increased expression may protect against severe GD1.It may function as a protective sphingolipid sensor and/or in glycosphingolipid trafficking. PMID: 22388998
- a novel, large CLN8 gene deletion c.544-2566_590del2613 in a Turkish family with a slightly more severe phenotype of neuronal ceroid lipofuscinose was described. PMID: 19807737
- patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities. PMID: 17129765
- CLN8 plays a role in cell proliferation during neuronal differentiation and in protection against cell death. PMID: 19431184
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相关疾病：Ceroid lipofuscinosis, neuronal, 8 (CLN8); Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE)
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亚细胞定位：Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Endoplasmic reticulum.
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