Aliases for COL2A1 Gene
External Ids for COL2A1 Gene
Previous Symbols for COL2A1 Gene
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL2A1 Gene
COL2A1 (Collagen, Type II, Alpha 1) is a Protein Coding gene. Diseases associated with COL2A1 include sed congenita and stickler syndrome, type i. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include identical protein binding and extracellular matrix structural constituent conferring tensile strength. An important paralog of this gene is COL3A1.
UniProtKB/Swiss-Prot for COL2A1 Gene
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces