Recombinant Human Ceroid-lipofuscinosis neuronal protein 5 (CLN5)

中文名稱：

Recombinant Human Ceroid-lipofuscinosis neuronal protein 5(CLN5)
貨號：

CSB-YP005567HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Ceroid-lipofuscinosis neuronal protein 5(CLN5)
貨號：

CSB-EP005567HU-B
說明書：

MSDS Datasheet
規(guī)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 Ceroid-lipofuscinosis neuronal protein 5(CLN5)
貨號：

CSB-BP005567HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Ceroid-lipofuscinosis neuronal protein 5(CLN5)
貨號：

CSB-MP005567HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

CLN5
Uniprot No.：

O75503
別名：

Ceroid lipofuscinosis neuronal 5; Ceroid-lipofuscinosis neuronal protein 5; CLN5; CLN5_HUMAN; NCL; Protein CLN5
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區(qū)域：

47-358
氨基酸序列

IPSR RHWPVPYKRF DFRPKPDPYC QAKYTFCPTG SPIPVMEGDD DIEVFRLQAP VWEFKYGDLL GHLKIMHDAI GFRSTLTGKN YTMEWYELFQ LGNCTFPHLR PEMDAPFWCN QGAACFFEGI DDVHWKENGT LVQVATISGN MFNQMAKWVK QDNETGIYYE TWNVKASPEK GAETWFDSYD CSKFVLRTFN KLAEFGAEFK NIETNYTRIF LYSGEPTYLG NETSVFGPTG NKTLGLAIKR FYYPFKPHLP TKEFLLSLLQ IFDAVIVHKQ FYLFYNFEYW FLPMKFPFIK ITYEEIPLPI RNKTLSGL
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(chǎn)品提供形式：

Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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(zhì)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(chǎn)品評價

靶點詳情

功能：

Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane.
基因功能參考文獻：
1. Genotype-phenotype correlation between CNL5 gene mutations and CNL5 disease symptoms. PMID: 28542837
2. We conclude that, whereas sleep homeostasis is present in CLN5(-/-) sheep, underlying CLN5(-/-) disease processes prevent its full expression, even at early stages. PMID: 27488642
3. findings support CLN5 hypomorphic mutations cause autosomal recessive cerebellar ataxia, confirming other reports showing CLN mutations are associated with adult-onset neurodegenerative disorders PMID: 25359263
4. Two forms of CLN5, derived from the C-terminal proteolytic processing, are present in most cells and tissues. PMID: 26342652
5. There are functional differences in various N-glycosylation sites of CLN5 which affect folding, trafficking, and lysosomal function of CLN5. PMID: 24058541
6. a role for CLN5 in controlling the itinerary of the lysosomal sorting receptors by regulating retromer recruitment at the endosome PMID: 22431521
7. 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
8. analysis of mutations in neuronal ceroid lipofuscinosis protein CLN5 PMID: 20052765
9. CLN5 mutations are 1) more common in patients with neuronal ceroid lipofuscinosis (NCL) than previously reported, 2) found in patients of broad ethnic diversity, and 3) can be identified in patients with disease onset in adult and juvenile epochs PMID: 20157158
10. Study found that CLN5 interacts with several other NCL proteins namely, CLN1/PPT1, CLN2/TPP1, CLN3, CLN6 and CLN8. PMID: 19941651
11. biosynthesis and intracellular localization of this protein PMID: 11971870
12. A novel missense mutation in CLN5 was found in a Colombian family with juvenile-onset neuronal ceroid lipofuscinosis: c. 1627G>A causing Arg112His. PMID: 15728307
13. The CLN5/mRNA expression level reduced to 45% supports the existence of one mRNA non-producing allele, further noticeable at the protein level. PMID: 16814585
14. Reports two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset. PMID: 17607606
15. In cultures of brain microvascular endothelial cells, VEGF-A specifically down-regulated CLN-5 and OCLN protein and mRNA PMID: 19174516
16. Double immunofluorescence microscopy showed that while the wild-type CLN5 protein is localized in lysosomes, both mutant CLN5 proteins are retained in the endoplasmic reticulum rather than reaching the lysosome. PMID: 19309691
顯示更多

收起更多
相關(guān)疾病：

Ceroid lipofuscinosis, neuronal, 5 (CLN5)
亞細胞定位：

[Ceroid-lipofuscinosis neuronal protein 5, secreted form]: Lysosome.; [Ceroid-lipofuscinosis neuronal protein 5]: Membrane; Single-pass type II membrane protein.
蛋白家族：

CLN5 family
組織特異性：

Ubiquitous.
數(shù)據(jù)庫鏈接：

HGNC: 2076

OMIM: 256731

KEGG: hsa:1203

STRING: 9606.ENSP00000366673

UniGene: Hs.30213