Recombinant Human Protocadherin-16 (DCHS1), partial

中文名稱：

Recombinant Human Protocadherin-16(DCHS1) ,partial
貨號：

CSB-YP850320HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Protocadherin-16(DCHS1) ,partial
貨號：

CSB-EP850320HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Protocadherin-16(DCHS1) ,partial
貨號：

CSB-EP850320HU-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 Protocadherin-16(DCHS1) ,partial
貨號：

CSB-BP850320HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Protocadherin-16(DCHS1) ,partial
貨號：

CSB-MP850320HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

DCHS1
Uniprot No.：

Q96JQ0
別名：

3110041P15Rik; C130033F22Rik; Cadherin-19; Cadherin-25; CDH19; CDH25; dachsous 1 (Drosophila); DCHS1; FIB1; Fibroblast cadherin-1; KIAA1773; OTTMUSP00000015964; PCD16_HUMAN; PCDH16; Protein dachsous homolog 1; Protocadherin-16
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：

Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration involved in valve formation.
基因功能參考文獻：
1. p.R2330C and p.R2513H were not identified in this cohort. found eight missense variants including six considered deleterious. This includes one novel variant (p.A2464P) and two rare variants (p.R2770Q and p.R2462Q). These variants are predicted to be deleterious with combined annotation-dependent depletion (CADD) scores greater than 25, which are in the same range as p.R2330C (CADD = 28.0) and p.R2513H (CADD = 24.3). PMID: 29224215
2. The infant was diagnosed with van Maldergem syndrome on the basis of the clinical features and this was subsequently confirmed with genetic analysis, which indicated a homozygous mutation (c.7204G>A p. D2402N ) in the DCHS1 gene PMID: 29505454
3. Study shows that when key regulators during mammalian cerebral cortical development are disrupted due to DCHS1-FAT4 mutations, functional cerebral asymmetries are stronger. PMID: 25930014
4. In sum, we establish Dchs1 as a component of the membrane domain surrounding the ciliary base. This suggests a specific role of Dchs1 in PCP-dependent organization of ciliary function and a possible role in lung disease. PMID: 27074579
5. DCHS1 deficiency in mitral valve prolapse patient mitral valve interstitial cells (MVICs), as well as in Dchs1(+/-) mouse MVICs, result in altered migration and cellular patterning, supporting these processes as aetiological underpinnings for the disease PMID: 26258302
6. These findings suggest that Fat and Dachsous self-bend due to the loss of Ca(2+)-binding amino acids from specific EC-EC linkers, and can therefore adapt to confined spaces. PMID: 25355906
7. findings show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia PMID: 24056717
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相關(guān)疾病：

Van Maldergem syndrome 1 (VMLDS1); Mitral valve prolapse 2 (MVP2)
亞細胞定位：

Cell membrane; Single-pass type I membrane protein.
組織特異性：

Expressed in fibroblasts but not in melanocytes or keratinocytes.
數(shù)據(jù)庫鏈接：

HGNC: 13681

OMIM: 601390

KEGG: hsa:8642

STRING: 9606.ENSP00000299441

UniGene: Hs.199850