Gene: COL6A3

Alternate names for this Gene: BTHLM1|DYT27|UCMD1

Gene Summary: This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.3

Description of this Gene: collagen type VI alpha 3 chain

Type of Gene: protein-coding

rs11903206 in COL6A3 gene and BETHLEM MYOPATHY 1 PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 9536084 1998 Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

PMID 17886299 2007 Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

PMID 10399756 1999 A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

PMID 18366090 2008 Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 19344236 2009 Collagen structure and stability.

PMID 26004199 2015 Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

PMID 27447704 2017 Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

PMID 18825676 2008 Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

PMID 26247046 2015 Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 28688748 2017 Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 21280092 2011 Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

rs6719451 in COL6A3 gene and Body Height PMID 29782485 2018 Evaluation and application of summary statistic imputation to discover new height-associated loci.

rs878854379 in COL6A3 gene and Congenital muscular dystrophy (disorder) PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

rs182976977 in COL6A3 gene and DYSTONIA 27 PMID 26004199 2015 Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

rs886042883 in COL6A3 gene and Muscle hypotonia PMID 18852439 2008 Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 24271325 2013 Natural history of pulmonary function in collagen VI-related myopathies.

PMID 11381124 2001 Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 26872670 2016 The role of mutations in COL6A3 in isolated dystonia.

PMID 11932968 2002 Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 23564457 2013 COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

PMID 17537636 2007 Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.

PMID 26004199 2015 Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

rs7599762 in COL6A3 gene and Tonometry PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

rs398124126 in COL6A3 gene and Ullrich congenital muscular dystrophy 1 PMID 19564581 2009 Natural history of Ullrich congenital muscular dystrophy.

PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 18366090 2008 Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

rs2645775 in COL6A3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.