| UniProt Protein Function: | 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. |
| NCBI Summary: | 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] |
| UniProt Code: | P02458 |
| NCBI GenInfo Identifier: | 124056489 |
| NCBI Gene ID: | 1280 |
| NCBI Accession: | P02458.3 |
| UniProt Secondary Accession: | P02458,Q12985, Q14009, Q14044, Q14045, Q14046, Q14047 Q14056, Q14058, Q16672, Q1JQ82, A6NGA0, |
| UniProt Related Accession: | P02458 |
| Molecular Weight: | 134,389 Da |
| NCBI Full Name: | Collagen alpha-1(II) chain |
| NCBI Synonym Full Names: | collagen type II alpha 1 chain |
| NCBI Official Symbol: | COL2A1 |
| NCBI Official Synonym Symbols: | AOM; ANFH; SEDC; STL1; COL11A3 |
| NCBI Protein Information: | collagen alpha-1(II) chain |
| UniProt Protein Name: | Collagen alpha-1(II) chain |
| UniProt Synonym Protein Names: | Alpha-1 type II collagenCurated |
| UniProt Gene Name: | COL2A1 |
