DYM
Description
The DYM (dymeclin) is a protein-coding gene located on chromosome 18.
Dymeclin is a protein encoded by the DYM gene in humans. It is essential for normal skeletal development and brain function. Mutations in this gene are linked to 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 only affects skeletal development.
DYM is also known as DMC, SMC.
