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Distinct positivity was observed in tumor stroma. Cancers tissues were negative.
GENE INFORMATION
Gene name
COL2A1 (HGNC Symbol)
Synonyms
AOM, SEDC, STL1
Description
Collagen, type II, alpha 1 (HGNC Symbol)
Entrez gene 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]