Aliases for COL9A1 Gene
External Ids for COL9A1 Gene
Previous GeneCards Identifiers for COL9A1 Gene
This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL9A1 Gene
COL9A1 (Collagen Type IX Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL9A1 include Stickler Syndrome, Type Iv and Epiphyseal Dysplasia, Multiple, 6. Among its related pathways are ERK Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL4A4.
UniProtKB/Swiss-Prot Summary for COL9A1 Gene
Structural component of hyaline cartilage and vitreous of the eye.