Gene Symbol | DYM |
Entrez Gene ID | 54808 |
Full Name | dymeclin |
Synonyms | DMC,SMC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Dyggve-Melchior-Clausen disease, 223800 (3); Smith-McCort dysplasia, 607326 (3) |