Product Name
COL6A1, cDNA Clone
Full Product Name
COL6A1 cDNA Clone
Product Gene Name
COL6A1 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgagggcgg cccgtgctct gctgcccctg ctgctgcagg cctgctggac agccgcgcag gatgagccgg agaccccgag ggccgtggcc ttccaggact gccccgtgga cctgttcttt gtgctggaca cctctgagag cgtggccctg aggctgaagc cctacggggc cctcgtggac aaagtcaagt ccttcaccaa gcgcttcatc gacaacctga gggacaggta ctaccgctgt gaccgaaacc tggtgtggaa cgcaggcgcg ctgcactaca gtgacgaggt ggagatcatc caaggcctca cgcgcatgcc tggcggccgc gacgcactca aaagcagcgt ggacgcggtc aagtactttg ggaagggcac ctacaccgac tgcgctatca agaaggggct ggagcagctc ctcgtggggg gctcccacct gaaggagaat aagtacctga ttgtggtgac cgacgggcac cccctggagg gctacaagga accctgtggg gggctggagg atgctgtgaa cgaggccaag cacctgggcg tcaaagtctt ctcggtggcc atcacacccg accacctgga gccgcgtctg agcatcatcg ccacggacca cacgtaccgg cgcaacttca cggcggctga ctggggccag agccgcgacg cagaggaggc catcagccag accatcgaca ccatcgtgga catgatcaaa aataacgtgg agcaagtgtg ctgctccttc gaatgccagc ctgcaagagg acctccgggg ctccggggcg accccggctt tgagggagaa cgaggcaagc cggggctccc aggagagaag ggagaagccg gagatcctgg aagacccggg gacctcggac ctgttgggta ccagggaatg aagggagaaa aagggagccg tggggagaag ggctccaggg gacccaaggg ctacaaggga gagaagggca agcgtggcat cgacggggtg gacggcgtga agggggagat ggggtaccca ggcctgccag gctgcaaggg ctcgcccggg tttgacggca ttcaaggacc ccctggcccc aagggagacc ccggcgcctt tggactgaaa ggagaaaagg gcgagcctgg agctgacggg gaggcgggga gaccagggag ctcgggacca tctggagacg agggccagcc gggagagcct gggccccccg gagagaaagg agaggcgggc gacgagggga acccaggacc tgacggtgcc cccggggagc ggggtggccc tggagagaga ggaccacggg ggaccccagg cacacgggga ccaagaggag accctggtga agctggcccg cagggtgatc agggaagaga aggccccgtt ggtgtccctg gagacccggg cgaggctggc cctatcggac ctaaaggcta ccgaggcgat gagggtcccc cagggtccga gggtgccaga ggagccccag gacctgccgg accccctgga gacccggggc tgatgggtga aaggggagaa gacggccccg ctggaaatgg caccgagggc ttccccggct tccccgggta tccgggcaac aggggcgctc ccgggataaa cggcacgaag ggctaccccg gcctcaaggg ggacgaggga gaagccgggg accccggaga cgataacaac gacattgcac cccgaggagt caaaggagca aaggggtacc ggggtcccga gggcccccag ggacccccag gacaccaagg accgcctggg ccggacgaat gcgagatttt ggacatcatc atgaaaatgt gctcttgctg tgaatgcaag tgcggcccca tcgacctcct gttcgtgctg gacagctcag agagcattgg cctgcagaac ttcgagattg ccaaggactt cgtcgtcaag gtcatcgacc ggctgagccg ggacgagctg gtcaagttcg agccagggca gtcgtacgcg ggtgtggtgc agtacagcca cagccagatg caggagcacg tgagcctgcg cagccccagc atccggaacg tgcaggagct caaggaagcc atcaagagcc tgcagtggat ggcgggcggc accttcacgg gggaggccct gcagtacacg cgggaccagc tgctgccgcc cagcccgaac aaccgcatcg ccctggtcat cactgacggg cgctcagaca ctcagaggga caccacaccg ctcaacgtgc tctgcagccc cggcatccag gtggtctccg tgggcatcaa agacgtgttt gacttcatcc caggctcaga ccagctcaat gtcatttctt gccaaggcct ggcaccatcc cagggccggc ccggcctctc gctggtcaag gagaactatg cagagctgct ggaggatgcc ttcctgaaga atgtcaccgc ccagatctgc atagacaaga agtgtccaga ttacacctgc cccatcacgt tctcctcccc ggctgacatc accatcctgc tggacggctc cgccagcgtg ggcagccaca actttgacac caccaagcgc ttcgccaagc gcctggccga gcgcttcctc acagcgggca ggacggaccc cgcccacgac gtgcgggtgg cggtggtgca gtacagcggc acgggccagc agcgcccaga gcgggcgtcg ctgcagttcc tgcagaacta cacggccctg gccagtgccg tcgatgccat ggactttatc aacgacgcca ccgacgtcaa cgatgccctg ggctatgtga cccgcttcta ccgcgaggcc tcgtccggcg ctgccaagaa gaggctgctg ctcttctcag atggcaactc gcagggcgcc acgcccgctg ccatcgagaa ggccgtgcag gaagcccagc gggcaggcat cgagatcttc gtggtggtcg tgggccgcca ggtgaatgag ccccacatcc gcgtcctggt caccggcaag acggccgagt acgacgtggc ctacggcgag agccacctgt tccgtgtccc cagctaccag gccctgctcc gcggtgtctt ccaccagaca gtctccagga aggtggcgct gggctag
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of COL6A1 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for COL6A1. It may not necessarily be applicable to this product.
NCBI Accession #
BC052575
[Other Products]
UniProt Secondary Accession #
O00117; O00118; Q14040; Q14041; Q16258; Q7Z645; Q9BSA8[Other Products]
UniProt Related Accession #
P12109[Other Products]
Molecular Weight
108,529 Da
NCBI Official Full Name
Homo sapiens collagen, type VI, alpha 1, mRNA
NCBI Official Synonym Full Names
collagen type VI alpha 1 chain
NCBI Official Symbol
COL6A1 [Similar Products]
NCBI Official Synonym Symbols
OPLL; BTHLM1; UCHMD1
[Similar Products]
NCBI Protein Information
collagen alpha-1(VI) chain
UniProt Protein Name
Collagen alpha-1(VI) chain
UniProt Gene Name
COL6A1 [Similar Products]
UniProt Entry Name
CO6A1_HUMAN
NCBI Summary for COL6A1
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
UniProt Comments for COL6A1
COL6A1: Collagen VI acts as a cell-binding protein. Defects in COL6A1 are a cause of Bethlem myopathy (BM). BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles. Defects in COL6A1 are a cause of Ullrich congenital muscular dystrophy (UCMD); also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. Belongs to the type VI collagen family.
Protein type: Extracellular matrix; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: endoplasmic reticulum lumen; extracellular matrix; extracellular region; lysosomal membrane; membrane; protein complex
Molecular Function: platelet-derived growth factor binding
Biological Process: collagen catabolic process; extracellular matrix organization and biogenesis; osteoblast differentiation
Disease: Bethlem Myopathy; Ullrich Congenital Muscular Dystrophy
Research Articles on COL6A1
1. COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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