Recombinant Human Intraflagellar transport protein 140 homolog (IFT140), partial

中文名稱：

人IFT140重組蛋白
貨號：

CSB-YP842756HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人IFT140重組蛋白
貨號：

CSB-EP842756HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人IFT140重組蛋白
貨號：

CSB-EP842756HU-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：

人IFT140重組蛋白
貨號：

CSB-BP842756HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人IFT140重組蛋白
貨號：

CSB-MP842756HU
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：

IFT140
Uniprot No.：

Q96RY7
別名：

IFT140; KIAA0590; WDTC2; Intraflagellar transport protein 140 homolog; WD and tetratricopeptide repeats protein 2
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：

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells.
基因功能參考文獻：
1. A maternally inherited homozygous biallelic mutation altering the exon 6 splice donor site in IFT140 gene causes Mainzer-Saldino syndrome. PMID: 28724397
2. We provide the first description of an Opitz trigonocephaly C syndrome (OTCS) phenotype that appears to result from IFT140 mutations. The presentation of this patient is consistent with previous reports showing that OTCS already exhibited skeleletal and nonskeletal features of a ciliopathy PMID: 27874174
3. Recessive IFT140 mutations cause a severe congenital retinal dystrophy with high hyperopia and often early photophilia. Developmental delay is common but not universal and not all patients have obvious extraocular findings. PMID: 26359340
4. This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease. PMID: 26968735
5. Identification of IFT140 variants in multiple unrelated non-syndromic Leber congenital amaurosis and retinitis pigmentosa. PMID: 26216056
6. Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome. PMID: 24698627
7. present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy PMID: 23418020
8. IFT140 mutations were identified in Mainzer-Saldino syndrome. IFT140 plays a role in proper development and function of ciliated cells. PMID: 22503633
9. loss of Ift140 causes pronounced renal cystic disease and suggest that abnormalities in several different pathways may influence cyst progression. PMID: 22282595
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相關疾病：

Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9)
亞細胞定位：

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
數據庫鏈接：

HGNC: 29077

OMIM: 266920

KEGG: hsa:9742

STRING: 9606.ENSP00000406012

UniGene: Hs.389438