Recombinant Human Cysteine-rich with EGF-like domain protein 1 (CRELD1)

in vitro E.coli expression system

中文名稱：

Recombinant Human Cysteine-rich with EGF-like domain protein 1(CRELD1)
貨號：

CSB-CF839335HU
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：

CRELD1
Uniprot No.：

Q96HD1
別名：

CRELD1; CIRRIN; UNQ188/PRO214; Protein disulfide isomerase CRELD1; Cysteine-rich with EGF-like domain protein 1
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

30-420
氨基酸序列

QPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENLSKYKDSETR LVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFG PSCLPCPGGTERPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHL VCSACFGPCARCSGPEESNCLQCKKGWALHHLKCVDIDECGTEGANCGADQFCVNTEGSY ECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQCENTEGGYR CICAEGYKQMEGICVKEQIPESAGFFSEMTEDELVVLQQMFFGIIICALATLAAKGDLVF TAIFIGAVAAMTGYWLSERSDRVLEGFIKGR
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 Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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：

Protein disulfide isomerase. Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane.
基因功能參考文獻：
1. The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients. PMID: 29054759
2. Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. PMID: 25524324
3. Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect. PMID: 24927998
4. we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals. PMID: 22987595
5. study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype PMID: 22740159
6. SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India. PMID: 21413875
7. CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation PMID: 21080147
8. CRELD1 could partly change the localization of RTN3 from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 through binding with it. PMID: 19521671
9. Missense mutations in this protein are associated with cardiac atrioventricular septal defects. PMID: 12632326
10. Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects PMID: 18076106
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相關疾病：

Atrioventricular septal defect 2 (AVSD2)
亞細胞定位：

Membrane; Multi-pass membrane protein.
蛋白家族：

CRELD family
組織特異性：

Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
數據庫鏈接：

HGNC: 14630

OMIM: 606217

KEGG: hsa:78987

UniGene: Hs.9383