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Validated All-in-One™ qPCR Primer for COL6A1(NM_001848.2) Search again
Product ID:
HQP002549
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BTHLM1, OPLL, UCHMD1
Gene Description:
collagen type VI alpha 1 chain
Target Gene Accession:
NM_001848.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
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).
Gene References into function
- COL6 genes encoding type VI collagen
- keratinocyte growth factor (KGF), a key stimulator of epithelial cell proliferation during wound healing, preferentially binds to collagens I, III, and VI.
- Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded
- Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures caused by mutations in the COL6A1 gene.
- Collagen VI deficiency might have caused electron microscopic changes of capillaries, while function of capillaries is apparently retained.
- a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy
- linkage disequilibrium and association studies that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with Ossification of the posterior longitudinal ligament
- The failure of collagen VI to anchor the basal lamina to the interstitium is the cause of Ullrich disease.
- dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD).
- we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype.
- COL6A1 could be responsible for the hyperostotic state, leading to ectopic bone formation in the spinal ligament.
- beta ig-h3 can differentially modulate the aggregation of collagen VI with biglycan and decorin
- Major promoter and enhancer sequences regulating COL6A1 expression are present in this bacterial artificial chromosome clone.
- This study identified a novel homozygous COL6A1 premature termination mutation in a UCMD patient that causes nonsense-mediated mRNA decay.
- This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains for collagen type VI in nuchal skin of human trisomy 21 fetuses.
- COL6A1 may be a common susceptibility gene for ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament in Chinese Han population.
- Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3.
- Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy (BM). It can be used to guide molecular genetic testing in a cost-effective and time-saving manner.
- Results found COL6A1 to be differentially expressed in human astrocytomas.
- SNP of COL6A1 were not related to radiographic progression of ankylosing spondylitis.
- These data indicate that collagen VI glycine mutations impair the assembly pathway in different ways and disease severity correlates with the assembly abnormality.