2024年12月24日 · COL11A1 (Collagen Type XI Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL11A1 include Stickler Syndrome, Type Ii and Marshall Syndrome. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Three transcript variants encoding different isoforms have been identified for this gene. [6]

The COL11A1 gene provides instructions for making a component of type XI collagen called the pro-alpha1(XI) chain. Learn about this gene and related health conditions.

2021年6月11日 · Collagen type XI alpha 1 (COL11A1) is overexpressed in CAFs; therefore this study examines its role during CAF activation in epithelial ovarian cancer (EOC). Coculturing human ovarian fibroblasts...

COL11A1 is predominantly expressed and secreted by a subset of cancer-associated fibroblasts, modulating tumor-stroma interaction and mechanical properties of extracellular matrix. COL11A1 also promotes cancer cell migration, metastasis, and therapy resistance by activating pro-survival pathways and modulating tumor metabolic phenotype.

COL11A1 expression is a promising marker of invasive breast lesions, and may be included in immunohistochemical panels aiming at identifying infiltration in problematic breast lesions. The immunodetection of procollagen 11A1 in cancer-associated stromal cells could be a useful biomarker for human colon adenocarcinoma characterisation.

COL11A1 is predominantly expressed and secreted by a subset of cancer-associated fibroblasts, modulating tumor-stroma interaction and mechanical properties of extracellular matrix. COL11A1 also promotes cancer cell migration, metastasis, and therapy resistance by activating pro-survival pathways and modulating tumor metabolic phenotype.

A functional polymorphism in COL11A1, which encodes the alpha-1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. Am. J. Hum. Genet. 81: 1271-1277, 2007.

2011年10月19日 · Collagen, type XI, alpha 1: an accurate marker for differential diagnosis of breast carcinoma invasiveness in core needle biopsies. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

2025年1月5日 · Title: [COL11A1 regulates PI3K/Akt/GSK-3β pathway and promotes human lung adenocarcinoma primary cell migration and invasion]. COL11A1-driven positive feedback loop modulates fibroblast transformation and activates pancreatic cancer progression.