Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1 (II) chain of type II collagen.

2019年4月25日 · Stickler syndrome, COL2A1-related, is one of the milder and more frequent type II collagen disorders [Barat-Houari et al 2016b, Barat-Houari et al 2016c], and the most common type of Stickler syndrome. It shows remarkable inter- and intrafamilial phenotypic variation, with severity ranging from involvement of many organs to milder phenotypes ...

The COL2A1 gene provides instructions for making the basic component of type II collagen, called the alpha-1(II) chain. Type II collagen adds structure and strength to connective tissues and plays an important role in the normal development of joints, eyes, and the inner ear.

2024年12月24日 · COL2A1 (Collagen Type II Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL2A1 include Kniest Dysplasia and Stickler Syndrome, Type I. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

2019年3月6日 · Our study reveals novel mechanisms for the inhibition of chondrocyte hypertrophy by COL2A1 and suggests that the degradation and decrease in COL2A1 might initiate and promote osteoarthritis...

Gene ID: 1280, updated on 8-Feb-2025. This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye.

Heterozygous mutations of COL2A1 create several clinical entities collectively termed type II collagenopathies. These disorders not only impair skeletal growth but also cause ocular and otolaryngological abnormalities.

Several skeletal and ocular disorders have been found to be caused by mutation in the COL2A1 gene. These are sometimes referred to as type II collagenopathies.

2024年9月19日 · Go to Variation Viewer for COL2A1 variants Summary This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye.

2024年4月1日 · Establishing a molecularly confirmed diagnosis to patients with splice variants in the COL2A1 gene poses a challenge. Functional analysis is essential procedure for pathogenicity evaluation and identification of splicing changes mechanisms. We successfully analyzed 22 splicing variants in COL2A1.