2024年12月24日 · COL6A1 (Collagen Type VI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL6A1 include Ullrich Congenital Muscular Dystrophy 1A and Bethlem …

Collagen alpha-1 (VI) chain is a protein that in humans is encoded by the COL6A1 gene. [5] The collagens are a superfamily of proteins that play a role in maintaining the integrity of various …

The COL6A1 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Learn about this gene and related …

2022年9月27日 · Collagen VI family (COL6A) is a major member of extracellular matrix protein. There is accumulating evidence that COL6A is involved in tumorigenesis and tumor …

The COL6A1 gene rs201153092A site polymorphism is a potential pathogenic mutation in thoracic ossification of the posterior longitudinal ligament. High COL6A1 expression is …

Our findings highlight the satisfactory predictive value of ECM-related prognostic models in BC and suggested that COL6A1 may be a potential biomarker in predicting malignant progression, …

胶原蛋白 VI 的基本结构单元是 alpha1 (VI) 、alpha2 (VI) 和 alpha3 (VI) 链的异源三聚体。 alpha2 (VI) 和 alpha3 (VI) 链分别由 COL6A2 和 COL6A3 基因编码。 该基因编码的蛋白质是 VI 型胶原 …

2024年9月19日 · Clinical resource with information about COL6A1, Bethlem myopathy 1A, Collagen 6-related myopathy, Ullrich congenital muscular dystrophy 1A, and available tests. …

Collagens play important roles in maintaining extracellular matrix structure and function. Members of the collagen VI family, like COL6A1, form distinct networks of microfibrils in connective …

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Detection of …