Recombinant Human Collagen alpha-2 (VI) chain (COL6A2), partial

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Code CSB-EP005752HU1
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 85% as determined by SDS-PAGE.
Target Names
Uniprot No.
Research Area
Signal Transduction
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
254-400aa
Target Protein Sequence
IPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSG
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
35.2 kDa
Protein Length
Partial of Isoform 2C2
Tag Info
N-terminal 10xHis-GST-tagged and C-terminal Myc-tagged
Form
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.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is 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
3-7 business days
Notes
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.
Description

Recombinant Human COL6A2 protein expression is initiated by transfecting e.coli cells with a DNA expression vector containing the gene encoding the protein of interest (254-400aa). The subsequent culturing of the cells induces the expression of the desired protein. The protein is equipped with a N-terminal 10xHis-GST tag and C-terminal Myc tag. The resulting recombinant Human COL6A2 protein is collected and purified from the cell lysate through affinity purification, demonstrating a purity greater than 85%, as indicated by SDS-PAGE.

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Target Background

Function
Collagen VI acts as a cell-binding protein.
Gene References into Functions
  1. binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro. PMID: 26944560
  2. Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients. PMID: 27563703
  3. Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy. PMID: 25533456
  4. In UCMD, 8 mutations were identified in COL6A2 in Chinese patients. PMID: 24801232
  5. COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages. PMID: 23452080
  6. Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (Progressive Myoclonus Epilepsy) in this family. PMID: 23138527
  7. A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient. PMID: 20302629
  8. the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy PMID: 20106987
  9. The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity. PMID: 19698785
  10. the C-terminal globular domain of COL6A2 is not essential for triple-helix formation but is critical for microfibrillar assembly in Ullrich congenital muscular dystrophy PMID: 12218063
  11. A case of Ullrich disease is associated with complete deficiency of collagen VI and compound heterozygous mutations in the collagen VI alpha 2 gene with absence of microfibrils on electron microscopy. PMID: 12297580
  12. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures, caused by mutations in COL6A1 gene, COL6A2 gene or COL6A3 gene. PMID: 12374585
  13. In Ullrich syndrome, a heterozygous G-to-A substitution at position +5 in intron 23 & the corresponding heterozygous 6-bp deletion in exon 26 which deleted 1 of the 2 tandem repeats of the sequence CATCGG in nt 2268-2273 & 2274-2279 in COL6A2 ORF. PMID: 14981181
  14. diminished COL6A2 mRNA expression found to be primary pathogenic mechanism in UCMD patient PMID: 16075202
  15. This study demonstrates a homogenoeous overexpression of the genes encoding for alpha1 and alpha2 chains of collagen type VI in nuchal skin of human trisomy 21 fetuses. PMID: 17602442
  16. Results describe the characteristic features of myosclerosis myopathy with a homozygous collagen type 6A2 mutation responsible for a peculiar pattern of collagen VI defects. PMID: 18852439

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Involvement in disease
Bethlem myopathy 1 (BTHLM1); Ullrich congenital muscular dystrophy 1 (UCMD1); Myosclerosis autosomal recessive (MYOSAR)
Subcellular Location
Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4.
Protein Families
Type VI collagen family
Database Links

HGNC: 2212

OMIM: 120240

KEGG: hsa:1292

STRING: 9606.ENSP00000300527

UniGene: Hs.420269

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