功能： disease:Defects in COMP are the cause of multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types.,disease:Defects in COMP are the cause of pseudoachondroplasia (PSACH) [MIM:177170]. PSAC is a dominantly inherited chondrodysplasia characterized by short stature and early-onset osteoarthrosis. PSACH is more severe than EDM1 and is recognized in early childhood.,similarity:Belongs to the thrombospondin family.,similarity:Contains 1 TSP C-terminal (TSPC) domain.,similarity:Contains 4 EGF-like domains.,similarity:Contains 8 TSP type-3 repeats.,subunit:Pentamer; disulfide-linked.,
组织表达： Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the main defect.
功能： disease:Defects in COMP are the cause of multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types.,disease:Defects in COMP are the cause of pseudoachondroplasia (PSACH) [MIM:177170]. PSAC is a dominantly inherited chondrodysplasia characterized by short stature and early-onset osteoarthrosis. PSACH is more severe than EDM1 and is recognized in early childhood.,similarity:Belongs to the thrombospondin family.,similarity:Contains 1 TSP C-terminal (TSPC) domain.,similarity:Contains 4 EGF-like domains.,similarity:Contains 8 TSP type-3 repeats.,subunit:Pentamer; disulfide-linked.,
组织表达： Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the main defect.
在线咨询
湘公网安备