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COL2A1
Collagen type II alpha 1 chainAOM, SEDC, STL1
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]
Top validated antibodies |
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| GeneTex |  GTX20300 |
4 references | Polyclonal |
WB
EL
ICC
IP
IHC
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| Novus Biologicals | H00001280-M01 |
4 references | Monoclonal |
WB
EL
ICC
IHC
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| Proteintech Group | 15943-1-AP |
40 references | Polyclonal |
WB
EL
IHC
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| Invitrogen Antibodies | MA1-37493 |
72 references | Monoclonal |
WB
IHC
FC
OA
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| OriGene | R1039 |
1 references | Polyclonal |
WB
EL
IP
IHC
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