Recombinant Human Uncharacterized protein C5orf42 (C5orf42), partial

中文名稱：

Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
貨號：

CSB-YP872510HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
貨號：

CSB-EP872510HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
貨號：

CSB-EP872510HU-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 Uncharacterized protein C5orf42(C5orf42) ,partial
貨號：

CSB-BP872510HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Uncharacterized protein C5orf42(C5orf42) ,partial
貨號：

CSB-MP872510HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

C5orf42
Uniprot No.：

Q9H799
別名：

CPLANE1; C5orf42; JBTS17; Ciliogenesis and planar polarity effector 1; Protein JBTS17
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(chǎn)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(fù)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：

Involved in ciliogenesis. Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies.
基因功能參考文獻：
1. Seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, were identified in OFD6 patients. PMID: 29605658
2. In C5orf42-mutant Joubert syndrome patients, the infratentorial magnetic resonance images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles, normal or minimally deepened interpeduncular fossa, and mild vermian hypoplasia. PMID: 28431631
3. C5orf42 is one of the causative genes for OFDVI. PMID: 25846457
4. C5orf42 mutation is associated with Oral-facial-digital syndrome type VI. PMID: 25407461
5. We identified causal C5orf42 mutations in 9/11 families meeting OFD VI diagnostic criteria, but no mutation in individuals with partly overlapping features. PMID: 24178751
6. C5orf42 and KIAA1377 gene synergistically play a role as susceptibility genes for monomelic amyotrophy. PMID: 22264561
7. The data suggested that mutations in C5ORF42 explain a large percentage of French Canadian individuals with Joubert syndrome. PMID: 22425360
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相關(guān)疾病：

Joubert syndrome 17 (JBTS17); Orofaciodigital syndrome 6 (OFD6)
亞細胞定位：

Membrane; Multi-pass membrane protein. Cell projection, cilium.
數(shù)據(jù)庫鏈接：

HGNC: 25801

OMIM: 277170

KEGG: hsa:65250

STRING: 9606.ENSP00000389014

UniGene: Hs.586199