Entrez 54808 | Ensembl ENSG00000141627 | |
Aliases DYM, DMC, SMC, dymeclin External IDs MGI: 1918480 HomoloGene: 69237 GeneCards: 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. 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.
References
DYM Wikipedia(Text) CC BY-SA