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

Code CSB-CF839335HU
MSDS
Size Pls inquire
Source in vitro E.coli expression system
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Product Details

Target Names
CRELD1
Uniprot No.
Alternative Names
CRELD1; CIRRIN; UNQ188/PRO214; Protein disulfide isomerase CRELD1; Cysteine-rich with EGF-like domain protein 1
Species
Homo sapiens (Human)
Expression Region
30-420
Target Protein Sequence
QPSPPPQSSPPPQPHPCHTCRGLVDSFNKGLERTIRDNFGGGNTAWEEENLSKYKDSETR LVEVLEGVCSKSDFECHRLLELSEELVESWWFHKQQEAPDLFQWLCSDSLKLCCPAGTFG PSCLPCPGGTERPCGGYGQCEGEGTRGGSGHCDCQAGYGGEACGQCGLGYFEAERNASHL VCSACFGPCARCSGPEESNCLQCKKGWALHHLKCVDIDECGTEGANCGADQFCVNTEGSY ECRDCAKACLGCMGAGPGRCKKCSPGYQQVGSKCLDVDECETEVCPGENKQCENTEGGYR CICAEGYKQMEGICVKEQIPESAGFFSEMTEDELVVLQQMFFGIIICALATLAAKGDLVF TAIFIGAVAAMTGYWLSERSDRVLEGFIKGR
Protein Length
Full Length of Mature Protein
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

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Target Background

Function
Protein disulfide isomerase. Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane.
Gene References into Functions
  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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Involvement in disease
Atrioventricular septal defect 2 (AVSD2)
Subcellular Location
Membrane; Multi-pass membrane protein.
Protein Families
CRELD family
Tissue Specificity
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.
Database Links

HGNC: 14630

OMIM: 606217

KEGG: hsa:78987

UniGene: Hs.9383

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