Aliases for COL9A3 Gene
External Ids for COL9A3 Gene
Previous GeneCards Identifiers for COL9A3 Gene
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. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
GeneCards Summary for COL9A3 Gene
COL9A3 (Collagen Type IX Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL9A3 include Epiphyseal Dysplasia, Multiple, 3 and Intervertebral Disc Disease. Among its related pathways are Collagen biosynthesis and modifying enzymes and RET signaling. GO annotations related to this gene include extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL22A1.
UniProtKB/Swiss-Prot for COL9A3 Gene
Structural component of hyaline cartilage and vitreous of the eye.