Product Data | |
Description | Recombinant protein of human collagen, type IX, alpha 1 (COL9A1), transcript variant 1 |
Species | Human |
Expression Host | HEK293T |
Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC218130. Click on the TrueORF clone link to view cDNA and protein sequences. |
Tag | C-Myc/DDK |
Predicted MW | 89.1 kDa |
Concentration | >50 ug/mL as determined by microplate BCA method |
Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Buffer | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
Reference Data | |
Locus ID | 1297 |
Refseq Size | 3704 |
Cytogenetics | 6q13 |
Refseq ORF | 2763 |
Synonyms | DJ149L1.1.2; EDM6; MED; STL4 |
Summary | This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
Protein Families | Druggable Genome |
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