CAA34683.1
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
COL2A1, partial
NCBI Official Synonym Full Names
collagen type II alpha 1 chain
NCBI Protein Information
collagen alpha-1(II) chain
NCBI Summary for COL2A1
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]
Research Articles on COL2A1
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Pathways associated with anti-COL2A1 antibody
Diseases associated with anti-COL2A1 antibody
Organs/Tissues associated with anti-COL2A1 antibody
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