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Collagen, type VI, alpha 2

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: COL6A1, CAN, HAD, Alpha-1, ACID
Papers on COL6A2
Accumulation and Changes in Composition of Collagens in Subcutaneous Adipose Tissue After Bariatric Surgery.
Clément et al., Paris, France. In J Clin Endocrinol Metab, Jan 2016
Expression levels of genes encoding ECM components (eg, COL3A1, COL6A1, COL6A2, ELN), cross-linking enzymes (eg, lysyl oxidase [LOX], LOXL4, transglutaminase), metalloproteinases, and their inhibitors were modified 1 year after BS.
A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.
Pilon et al., In J Clin Invest, Jan 2016
Moreover, as COL6A1 and COL6A2 are on human Chr.21q, this mechanism is highly relevant to the predisposition of patients with Down syndrome to HSCR.
Two novel COLVI long chains in zebrafish that are essential for muscle development.
Allamand et al., Paris, France. In Hum Mol Genet, Jan 2016
Using morpholino antisense oligonucleotides targeting col6a4a, col6a4b and col6a2, we modelled partial and complete COLVI deficiency, respectively.
Paternal germline mosaicism in collagen VI related myopathies.
Gualandi et al., Ferrara, Italy. In Eur J Paediatr Neurol, Sep 2015
BACKGROUND: Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix.
[Noninvasive prenatal screen of trisomy-21 using maternal plasma fetal free RNA allelic ratio].
Ren et al., Zhengzhou, China. In Zhonghua Fu Chan Ke Za Zhi, Aug 2015
OBJECTIVE: Through the detections of the heterozygote frequencies tests of fetal specific genes PLAC4 and COL6A2 mRNA alleles in plasma of pregnant women, to explore its possibility of application in the noninvasive prenatal screenings of trisomy-21.
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Nishino et al., Kodaira, Japan. In J Neurol Neurosurg Psychiatry, Mar 2015
Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in either COL6A1, COL6A2 or COL6A3 gene, thereby leading to collagen VI deficiency in the ECM.
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
Lamandé et al., Australia. In J Biol Chem, Mar 2015
We identified a homozygous COL6A2 p.D871N amino acid substitution in the C-terminal C2 A-domain.
The effects of high-fat feeding on physical function and skeletal muscle extracellular matrix.
Twigg et al., Sydney, Australia. In Nutr Diabetes, 2014
Genes related to ECM structure (COL1, COL3, COL6A2, SPARC), growth factors (TGFB1, TGFB2, CTGF, VEGF) and muscle function (DMD (Dp147), CPN3, DAG1) were measured in gastrocnemius muscle using real-time PCR and COL1, 3 and 6 protein were measured by western immunoblot.
A genome-wide approach to link genotype to clinical outcome by utilizing next generation sequencing and gene chip data of 6,697 breast cancer patients.
Győrffy et al., Budapest, Hungary. In Genome Med, 2014
RESULTS: According to this approach, the top driver oncogenes having a mutation prevalence over 5 % included AKT1, TRANK1, TRAPPC10, RPGR, COL6A2, RAPGEF4, ATG2B, CNTRL, NAA38, OSBPL10, POTEF, SCLT1, SUN1, VWDE, MTUS2, and PIK3CA, and the top tumor suppressor genes included PHEX, TP53, GGA3, RGS22, PXDNL, ARFGEF1, BRCA2, CHD8, GCC2, and ARMC4.
The value of respiratory muscle testing in a child with congenital muscular dystrophy.
Fauroux et al., Gennevilliers, France. In Respirol Case Rep, 2014
Skin-cultured fibroblasts showed intracellular retention of collagen 6 (COL6), muscle magnetic resonance imaging was typical of COL6 myopathy, and molecular studies identified a COL6 gene mutation (COL6A2 c.954+2T>C).
Collagen type VI myopathies.
Hicks et al., Newcastle upon Tyne, United Kingdom. In Adv Exp Med Biol, 2013
Mutations in each of the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild to moderate phenotype Bethlem myopathy.
The expanded collagen VI family: new chains and new questions.
Hansen et al., In Connect Tissue Res, 2012
COL6A2 and COL6A3 genes, were first described more than 20 years ago.
[Collagen VI-related muscle disorders].
Higuchi, Kagoshima, Japan. In Brain Nerve, 2011
Mutations in the 3 collagen VI genes, namely, COL6A1, COL6A2, and COL6A3, cause both diseases.
The collagen VI-related myopathies: muscle meets its matrix.
Bönnemann, Bethesda, United States. In Nat Rev Neurol, 2011
Dominant and recessive autosomal mutations in the three major collagen VI genes-COL6A1, COL6A2, and COL6A3-can underlie this entire clinical spectrum, and result in deficient or dysfunctional microfibrillar collagen VI in the extracellular matrix of muscle and other connective tissues, such as skin and tendons.
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
Chu et al., Philadelphia, United States. In J Biol Chem, 2010
the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
Gualandi et al., Ferrara, Italy. In Bmc Med Genet, 2009
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.
The alpha 2 chain of collagen type VI sequesters latent proforms of matrix-metalloproteinases and modulates their activation and activity.
Ruehl et al., Berlin, Germany. In Matrix Biol, 2009
The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity.
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
Gualandi et al., Ferrara, Italy. In Hum Mutat, 2009
Four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6 genes affecting RNA splicing, were identified.
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
Bonaldo et al., Ferrara, Italy. In Neurology, 2008
Results describe the characteristic features of myosclerosis myopathy with a homozygous collagen type 6A2 mutation responsible for a peculiar pattern of collagen VI defects.
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.
Bolhuis et al., Amsterdam, Netherlands. In Nat Genet, 1996
Nine kindreds show genetic linkage to the COL6A1-COL6A2 cluster on chromosome 21q22.3
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