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

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

Baculovirus

Code
MSDS	MSDS Datasheet
Size	Pls inquire
Source
Conjugate
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Product Details
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Target Background

Product Details

Purity

>85% (SDS-PAGE)

Target Names

COL6A2

Uniprot NO.

P12110

Species

Homo sapiens (Human)

Source

Yeast

Expression Region

21-1019

Target Protein Sequence

QQQEVISPDT TERNNNCPEK TDCPIHVYFV LDTSESVTMQ SPTDILLFHM KQFVPQFISQ LQNEFYLDQV ALSWRYGGLH FSDQVEVFSP PGSDRASFIK NLQGISSFRR GTFTDCALAN MTEQIRQDRS KGTVHFAVVI TDGHVTGSPC GGIKLQAERA REEGIRLFAV APNQNLKEQG LRDIASTPHE LYRNDYATML PDSTEIDQDT INRIIKVMKH EAYGECYKVS CLEIPGPSGP KGYRGQKGAK GNMGEPGEPG QKGRQGDPGI EGPIGFPGPK GVPGFKGEKG EFGADGRKGA PGLAGKNGTD GQKGKLGRIG PPGCKGDPGN RGPDGYPGEA GSPGERGDQG GKGDPGRPGR RGPPGEIGAK GSKGYQGNSG APGSPGVKGA KGGPGPRGPK GEPGRRGDPG TKGSPGSDGP KGEKGDPGPE GPRGLAGEVG NKGAKGDRGL PGPRGPQGAL GEPGKQGSRG DPGDAGPRGD SGQPGPKGDP GRPGFSYPGP RGAPGEKGEP GPRGPEGGRG DFGLKGEPGR KGEKGEPADP GPPGEPGPRG PRGVPGPEGE PGPPGDPGLT ECDVMTYVRE TCGCCDCEKR CGALDVVFVI DSSESIGYTN FTLEKNFVIN VVNRLGAIAK DPKSETGTRV GVVQYSHEGT FEAIQLDDER IDSLSSFKEA VKNLEWIAGG TWTPSALKFA YDRLIKESRR QKTRVFAVVI TDGRHDPRDD DLNLRALCDR DVTVTAIGIG DMFHEKHESE NLYSIACDKP QQVRNMTLFS DLVAEKFIDD MEDVLCPDPQ IVCPDLPCQT ELSVAQCTQR PVDIVFLLDG SERLGEQNFH KARRFVEQVA RRLTLARRDD DPLNARVALL QFGGPGEQQV AFPLSHNLTA IHEALETTQY LNSFSHVGAG VVHAINAIVR SPRGGARRHA ELSFVFLTDG VTGNDSLHES AHSMRKQNVV PTVLALGSDV DMDVLTTLSL GDRAAVFHEK DYDSLAQPGF FDRFIRWIC
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.

Protein Length

Partial

Tag Info

N-terminal His-tagged/Tag-Free
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.

Storage

Store at -20°C, for extended storage, conserve at -20°C or -80°C.

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.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

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Target Background

Function(From Uniprot)

Collagen VI acts as a cell-binding protein.

Gene References into Functions

binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro. PMID:26944560
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
Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy. PMID:25533456
In UCMD, 8 mutations were identified in COL6A2 in Chinese patients. PMID:24801232
COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages. PMID:23452080
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
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
the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy PMID:20106987
The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity. PMID:19698785
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
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
Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures, caused by mutations in COL6A1 gene, COL6A2 gene or COL6A3 gene. PMID:12374585
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
diminished COL6A2 mRNA expression found to be primary pathogenic mechanism in UCMD patient PMID:16075202
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
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