Gene: COL6A1

Alternate names for this Gene: BTHLM1|OPLL|UCHMD1

Gene 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). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: collagen type VI alpha 1 chain

Type of Gene: protein-coding

rs112814811 in COL6A1 gene and BETHLEM MYOPATHY 1 PMID 21280092 2011 Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

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

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

PMID 15955946 2005 Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.

PMID 8782832 1996 Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

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

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

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

PMID 28877744 2017 Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 17785674 2007 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

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

PMID 24801232 2014 Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

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

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 16130093 2005 Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

PMID 19564581 2009 Natural history of Ullrich congenital muscular dystrophy.

PMID 19344236 2009 Collagen structure and stability.

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

PMID 28182637 2017 Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

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

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

PMID 28424332 2017 Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

PMID 19884007 2009 Autosomal recessive inheritance of classic Bethlem myopathy.

PMID 12840783 2003 New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

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

PMID 23661642 2013 Structure of parkin reveals mechanisms for ubiquitin ligase activation.

PMID 10419498 1999 Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.

PMID 22975586 2012 Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling.

PMID 26867126 2016 GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

PMID 22075033 2012 Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.

PMID 24223098 2013 Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.

PMID 29417091 2018 Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

PMID 25535305 2015 Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.

rs13051496 in COL6A1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs75434097 in COL6A1 gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs148766287 in COL6A1 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs121912938 in COL6A1 gene and Ullrich congenital muscular dystrophy 1 PMID 17785674 2007 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

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

PMID 16130093 2005 Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

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

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.