| Protein Name | dymeclin |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 54808 |
| Gene Symbol | DYM |
| UniProt | Q7RTS9 (DYM_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
25
Total Number of Articles : 15 |
Description |
dymeclin |
| Gene 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] |
| synonyms |
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| Properties | |