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 Myopathy 1A. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

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 tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element.

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 health conditions.

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 progression. In this study, we performed a systematic analysis of COL6A in pan-cancer based on their molecular features and clinical significance.

The COL6A1 gene rs201153092A site polymorphism is a potential pathogenic mutation in thoracic ossification of the posterior longitudinal ligament. High COL6A1 expression is associated with metastasis in pancreatic cancer.

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, prognosis, and efficacy of immunotherapy in BC.

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 型胶原蛋白的 alpha 1 亚基 (alpha1 (VI) 链) 。 编码胶原蛋白 VI 亚基的基因发生突变会导致常染色体显性遗传病，贝特莱姆肌病。 [RefSeq 提供，2008 年 7 月] The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues.

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. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

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 tissue and interact with other extracellular matrix components (summary by Gara et al., 2008).

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.