Mar 28, 2025 · COL9A2 (Collagen Type IX Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL9A2 include Stickler Syndrome, Type V and Epiphyseal Dysplasia, Multiple, 2. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

The COL9A2 gene provides instructions for making part of a large molecule called type IX collagen. Learn about this gene and related health conditions.

Collagen alpha-2(IX) chain is a protein that in humans is encoded by the COL9A2 gene. [ 5 ] [ 6 ] [ 7 ] [ 8 ] This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage.

Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain.

The COL9A2 gene encodes the alpha-2 subunit of collagen type IX. Type IX collagen, a heterotrimer of alpha-1 (COL9A1; 120210), alpha-2, and alpha-3 (COL9A3; 120270) chains specific for this type of collagen, is a cartilage-specific …

As one of the branched chains of Type IX collagen (Col9), Collagen IX alpha2 (Col9a2) has been reported to be associated with several orthopedic conditions. However, the relationship between Col9a2 and knee osteoarthritis (KOA) remains to be elucidated.

Oct 9, 2013 · Clinical resource with information about COL9A2, Epiphyseal dysplasia, multiple, 2, Stickler syndrome, type 5, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

We describe a family with autosomal recessive Stickler syndrome. The main clinical findings consisted of high myopia, vitreoretinal degeneration, retinal detachment, hearing loss, and short stature. Affected family members were found to have a homozygous loss-of-function mutation in COL9A2, c.843_c.846 + 4del8.

Structural component of hyaline cartilage and vitreous of the eye. Gene Ontology (GO) annotations organized by slimming set. A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms.

As an essential component of the extracellular matrix (ECM) in cartilage, the α2 chain of type IX collagen (Col9a2), has been implicated in human intervertebral disc degeneration (IVDD). However, the precise role of the Col9a2 gene in the pathogenesis of IVDD has remained elusive.