Recombinant Human Transmembrane protein 216 (TMEM216)

in vitro E.coli expression system

中文名稱：

人TMEM216重組蛋白
貨號：

CSB-CF023810HU
說明書：

MSDS Datasheet
規格：
來源：

in vitro E.coli expression system
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

基因名：

TMEM216
Uniprot No.：

Q9P0N5
別名：

TMEM216; HSPC244; Transmembrane protein 216
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-145
氨基酸序列

MLPRGLKMAPRGKRLSSTPLEILFFLNGWYNATYFLLELFIFLYKGVLLPYPTANLVLDV VMLLLYLGIEVIRLFFGTKGNLCQRKMPLSISVALTFPSAMMASYYLLLQTYVLRLEAIM NGILLFFCGSELLLEVLTLAAFSRI
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產品提供形式：

Liquid or 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.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
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：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.
基因功能參考文獻：
1. study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region PMID: 22282472
2. Data show that a single G218T mutation (R73L in the protein) was identified in all cases of Ashkenazi Jewish descent. PMID: 20512146
3. a TMEM216 mutation may have a role in Joubert syndrome 2 (JBTS2) in Ashkenazi Jews PMID: 20036350
相關疾病：

Joubert syndrome 2 (JBTS2); Meckel syndrome 2 (MKS2)
亞細胞定位：

Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
數據庫鏈接：

HGNC: 25018

OMIM: 603194

KEGG: hsa:51259

STRING: 9606.ENSP00000440638

UniGene: Hs.26745