Recombinant Human Lebercilin (LCA5)

Code CSB-YP769789HU
MSDS
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Source Yeast
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Code CSB-EP769789HU
MSDS
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Source E.coli
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Code CSB-EP769789HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP769789HU
MSDS
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Source Baculovirus
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Code CSB-MP769789HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
LCA5
Uniprot No.
Alternative Names
LCA5; C6orf152Lebercilin; Leber congenital amaurosis 5 protein
Species
Homo sapiens (Human)
Expression Region
1-697
Target Protein Sequence
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
Protein Length
full length protein
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

Customer Reviews and Q&A

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Target Background

Function
Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
Gene References into Functions
  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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Involvement in disease
Leber congenital amaurosis 5 (LCA5)
Subcellular Location
Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
Protein Families
LCA5 family
Tissue Specificity
Widely expressed.
Database Links

HGNC: 31923

OMIM: 604537

KEGG: hsa:167691

STRING: 9606.ENSP00000358861

UniGene: Hs.21945

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