COL9A1, Official Symbol COL9A1provided by HGNC Official Full Name collagen type IX alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2217 See related Ensembl:ENSG00000112280 MIM:120210; AllianceGenome:HGNC:2217 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MED; EDM6; STL4; DJ149L1.1.2 Summary 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] Expression Biased expression in prostate (RPKM 6.1), testis (RPKM 1.3) and 6 other tissues See more Orthologs mouse all