Recombinant Human Lebercilin (LCA5)

中文名稱：

人LCA5重組蛋白
貨號：

CSB-YP769789HU
規格：
來源：

Yeast
其他：

中文名稱：

人LCA5重組蛋白
貨號：

CSB-EP769789HU
規格：
來源：

E.coli
其他：

中文名稱：

人LCA5重組蛋白
貨號：

CSB-EP769789HU-B
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：

人LCA5重組蛋白
貨號：

CSB-BP769789HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人LCA5重組蛋白
貨號：

CSB-MP769789HU
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：

LCA5
Uniprot No.：

Q86VQ0
別名：

LCA5; C6orf152Lebercilin; Leber congenital amaurosis 5 protein
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-697
氨基酸序列

MGERAGSPGT DQERKAGKHH YSYLSDFETP QSSGRSSLVS SSPASVRRKN PKRQTSDGQV HHQAPRKPSP KGLPNRKGVR VGFRSQSLNR EPLRKDTDLV TKRILSARLL KINELQNEVS ELQVKLAELL KENKSLKRLQ YRQEKALNKF EDAENEISQL IFRHNNEITA LKERLRKSQE KERATEKRVK DTESELFRTK FSLQKLKEIS EARHLPERDD LAKKLVSAEL KLDDTERRIK ELSKNLELST NSFQRQLLAE RKRAYEAHDE NKVLQKEVQR LYHKLKEKER ELDIKNIYSN RLPKSSPNKE KELALRKNAA CQSDFADLCT KGVQTMEDFK PEEYPLTPET IMCYENKWEE PGHLTLDLQS QKQDRHGEAG ILNPIMEREE KFVTDEELHV VKQEVEKLED EWEREELDKK QKEKASLLER EEKPEWETGR YQLGMYPIQN MDKLQGEEEE RLKREMLLAK LNEIDRELQD SRNLKYPVLP LLPDFESKLH SPERSPKTYR FSESSERLFN GHHLQDISFS TPKGEGQNSG NVRSPASPNE FAFGSYVPSF AKTSERSNPF SQKSSFLDFQ RNSMEKLSKD GVDLITRKEK KANLMEQLFG ASGSSTISSK SSDPNSVASS KGDIDPLNFL PGNKGSRDQE HDEDEGFFLS EGRSFNPNRH RLKHADDKPA VKAADSVEDE IEEVALR
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：

Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
基因功能參考文獻：
1. The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy. PMID: 27067258
2. Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa. PMID: 23946133
3. This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations. PMID: 24144451
4. A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts. PMID: 21850168
5. Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma. PMID: 16082399
6. The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5. PMID: 17546029
7. Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%). PMID: 18000884
8. This is the second report of LCA5 mutations causing Leber congenital amaurosis. PMID: 18334959
9. This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans PMID: 19172513
10. Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions PMID: 19503738
11. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin PMID: 19800048
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相關疾病：

Leber congenital amaurosis 5 (LCA5)
亞細胞定位：

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
蛋白家族：

LCA5 family
組織特異性：

Widely expressed.
數據庫鏈接：

HGNC: 31923

OMIM: 604537

KEGG: hsa:167691

STRING: 9606.ENSP00000358861

UniGene: Hs.21945