Dymeclin (DYM)

Dymeclin is a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation.

Permeabilization assays revealed that dymeclin is not a transmembrane but a peripheral protein of the Golgi apparatus as it can be completely released from the Golgi after permeabilization of the plasma membrane. Time-lapse microscopy of living cells showed that dymeclin shuttled between the cytosol and the Golgi apparatus in a highly dynamic manner and recognized specifically a subset of mature Golgi membranes.