External Ids for DYM Gene
Previous GeneCards Identifiers for DYM Gene
This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
GeneCards Summary for DYM Gene
DYM (Dymeclin) is a Protein Coding gene. Diseases associated with DYM include Smith-Mccort Dysplasia 1 and Dyggve-Melchior-Clausen Disease. Gene Ontology (GO) annotations related to this gene include binding and enzyme binding.
UniProtKB/Swiss-Prot for DYM Gene
Necessary for correct organization of Golgi apparatus. Involved in bone development.