Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
Three patients with a form of the Ehlers-Danlos syndrome, a generalized disorder of connective tissue, have detectable amounts of procollagen in extracts of their skin and tendon. The activity of procollagen peptidase, the enzyme that converts procollagen to collagen, is reduced in cultures of fibroblasts. The clinical manifestations of this syndrome may be related to impaired enzymatic conversion of procollagen to collagen. Cultures of skin fibroblasts from these patients have an increased rate of synthesis of collagenous protein (collagen and procollagen), possibly related to the inability of these cells to convert procollagen to collagen.
D002250:Carbon Radioisotopes; D003094:Collagen / Q000096:biosynthesis*; D004535:Ehlers-Danlos Syndrome / Q000201:enzymology / Q000378:metabolism*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006909:Hydroxyproline / Q000378:metabolism; D008970:Molecular Weight; D010447:Peptide Hydrolases / Q000378:metabolism; D011392:Proline / Q000378:metabolism; D011498:Protein Precursors / Q000302:isolation & purification / Q000378:metabolism*; D012867:Skin / Q000032:analysis / Q000378:metabolism*; D013710:Tendons / Q000032:analysis / Q000378:metabolism
D002250:Carbon Radioisotopes; D011498:Protein Precursors; D003094:Collagen; D011392:Proline; D010447:Peptide Hydrolases; D006909:Hydroxyproline