Recombinant Human Protein CLN8 (CLN8), partial

中文名稱：

Recombinant Human Protein CLN8(CLN8),partial
貨號：

CSB-YP866210HU1
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Protein CLN8(CLN8),partial
貨號：

CSB-EP866210HU1
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Protein CLN8(CLN8),partial
貨號：

CSB-EP866210HU1-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

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：

中文名稱：

Recombinant Human Protein CLN8(CLN8),partial
貨號：

CSB-BP866210HU1
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Protein CLN8(CLN8),partial
貨號：

CSB-MP866210HU1
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

CLN8
Uniprot No.：

Q9UBY8
別名：

CLN8; C8orf61; Protein CLN8
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

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.
產品提供形式：

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.
復溶：

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.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

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.
貨期：

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.
注意事項：

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.

產品評價

靶點詳情

功能：

Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.
基因功能參考文獻：
1. 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
2. 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
3. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis PMID: 26443629
4. This study does not support a contribution of rare missense CLN8 variations to ASD susceptibility in the Japanese population. PMID: 26657971
5. 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
6. 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
7. 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
8. 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
9. 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
10. CLN8 plays a role in cell proliferation during neuronal differentiation and in protection against cell death. PMID: 19431184
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相關疾病：

Ceroid lipofuscinosis, neuronal, 8 (CLN8); Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE)
亞細胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Endoplasmic reticulum.
數據庫鏈接：

HGNC: 2079

OMIM: 600143

KEGG: hsa:2055

STRING: 9606.ENSP00000328182

UniGene: Hs.127675