Recombinant Human Meckelin (TMEM67), partial

中文名稱：

人TMEM67重組蛋白
貨號：

CSB-YP689243HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人TMEM67重組蛋白
貨號：

CSB-EP689243HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人TMEM67重組蛋白
貨號：

CSB-EP689243HU-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TMEM67重組蛋白
貨號：

CSB-BP689243HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人TMEM67重組蛋白
貨號：

CSB-MP689243HU
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：

TMEM67
Uniprot No.：

Q5HYA8
別名：

TMEM67; MKS3; Meckelin; Meckel syndrome type 3 protein; Transmembrane protein 67
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：

Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
基因功能參考文獻：
1. The authors results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. PMID: 28719906
2. Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. PMID: 28161324
3. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
4. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. PMID: 23393159
5. mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates PMID: 20232449
6. Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. PMID: 19815549
7. mapping to chromosome 8 and possible role in Meckel-Gruber syndrome PMID: 12384791
8. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. PMID: 16415887
9. identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) PMID: 17160906
10. Mutations in MKS3 is associated with Bardet-Biedl syndrome PMID: 18327255
11. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). PMID: 19058225
12. Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis. PMID: 19508969
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相關疾病：

Meckel syndrome 3 (MKS3); Joubert syndrome 6 (JBTS6); Bardet-Biedl syndrome (BBS); COACH syndrome (COACHS); Nephronophthisis 11 (NPHP11)
亞細胞定位：

Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body.
組織特異性：

Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
數據庫鏈接：

HGNC: 28396

OMIM: 209900

KEGG: hsa:91147

STRING: 9606.ENSP00000389998

UniGene: Hs.116240