DYM
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| dymeclin | MIM:607461 | Ensembl:ENSG00000141627 | HGNC:HGNC:21317 | PA134879547 | 18q21.1 |
GO terms in DYM
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0007030 | Golgi organization |
| BP | IMP | GO:0007030 | Golgi organization |
| BP | IMP | GO:0060348 | bone development |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0016020 | membrane |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019899 | enzyme binding |
Gene expression in normal tissue: DYM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DYM
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DYM
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