DYM

Dymeclin is a protein that in humans is encoded by the DYM gene.

This gene encodes a protein which is necessary for normal skeletal development and brain function and has been first described and named in 2003. Mutations in this gene are associated with two types of recessive osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC) syndrome, which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.