| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| Allelic series include those conditions caused by mutations in the genes encoding type 2 collagen ( COL2A1 ) , cartilage oligomeric matrix protein ( COMP ) , fibroblast growth factor receptor 3 ( FGFR 3 ) and the diastrophic dysplasia sulfate transporter ( DTDST ) . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| PSACH results from mutations in the cartilage oligomeric matrix protein ( COMP ) gene , while SEDC is caused by mutations in the gene for type 2 procollagen ( COL2A1 ) . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| Cells placed in a 3 dimensional matrix of alginate beads and cultured in a serum free media with bone morphogenetic protein 2 and 9 induced expression of type 2 collagen ( Col2A1 ) mRNA and increased expression of aggrecan and cartilage oligomeric matrix protein suggesting chondrogenic differentiation of the cells . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| Genetic linkage analysis of 14 candidate genes resulted in the exclusion of 10 important genes ( COL2A1 , COL9A1 , COL9A2 , COL11A1 , COL11A2 , COMP , the CPDD region , CRTL 1 , CRTM , and MMP 3 ) . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| Gene expression of col2a1 , aggrecan , COMP , alkaline phosphatase ( AP ) , and correlating protein synthesis was analyzed . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| The gene encoding type 2 collagen ( COL2A1 ) was tested for genetic linkage to MED in this family by restriction fragment length polymorphism ( RFLP ) analysis . ^^^ Recombination between COL2A1 and MED was observed , ruling out COL2A1 as the site of the mutation . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| Zabel et al . [ 1996 : Am J Med Genet 63 ( 1 ) : 123 128 ] reported an individual with short stature and SPD who was heterozygous for a frameshift mutation in the C propeptide domain of COL2A1 . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| Mutations of COL2A1 , COL9A2 , COL 10 , and FGFR 3 have been reported previously in the Strudwick type of SEMD , multiple epiphyseal dysplasia type 2 ( EDM 2 ) , the Schmid type of metaphyseal dysplasia , and in achondroplasia , respectively , and the pseudoachondroplasia ( PSACH ) locus has been mapped to chromosome 19p12 . ^^^ |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: P49747 and P02458 |
Pubmed |
SVM Score :0.0 |
| NA |
|