Automated description from the Alliance of Genome Resources (Release 3.1)
Exhibits identical protein binding activity. Involved in several processes, including animal organ development; collagen fibril organization; and negative regulation of extrinsic apoptotic signaling pathway in absence of ligand. Localizes to several cellular components, including basement membrane; collagen type II trimer; and extracellular space. Is expressed in several structures, including central nervous system; heart and pericardium; limb; sensory organ; and skeleton. Used to study achondrogenesis type II; spondyloepimetaphyseal dysplasia; and spondyloepiphyseal dysplasia congenita. Human ortholog(s) of this gene implicated in Stickler syndrome; bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Orthologous to human COL2A1 (collagen type II alpha 1 chain).