[HTML][HTML] Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes
Mutations in residues in the type 3 calcium-binding repeats and COOH-terminal globular
region of cartilage oligomeric matrix protein (COMP) lead to two skeletal dysplasias,
pseudoachondroplasia and multiple epiphyseal dysplasia. It has been hypothesized that
these mutations cause COMP to misfold and to be retained in the endoplasmic reticulum.
However, this hypothesis is not supported by previous reports that COMP, when purified in
the presence of EDTA, shows no obvious difference in electron microscopic appearance in …
region of cartilage oligomeric matrix protein (COMP) lead to two skeletal dysplasias,
pseudoachondroplasia and multiple epiphyseal dysplasia. It has been hypothesized that
these mutations cause COMP to misfold and to be retained in the endoplasmic reticulum.
However, this hypothesis is not supported by previous reports that COMP, when purified in
the presence of EDTA, shows no obvious difference in electron microscopic appearance in …