DYM Gene (Dymeclin)
DYM Gene: Associated with Dyggve-Melchior-Clausen Syndrome and Smith-McCort Dysplasia
Gene Information Card
| Symbol | DYM |
|---|---|
| Full Name | Dymeclin |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 54808 ncbi.nlm.nih.gov/gene/54808 |
| Ensembl ID | ENSG00000141627 |
| UniProt ID | Q7L0Y3 |
| OMIM ID | 607461 |
| HGNC ID | 2132 |
| Aliases | FLJ20071, MGC138211, MGC138213, SMC |
Description
The DYM gene encodes dymeclin, a protein involved in intracellular trafficking and Golgi function. Mutations in DYM cause autosomal recessive skeletal dysplasias, including Dyggve-Melchior-Clausen syndrome (DMC) and Smith-McCort dysplasia (SMC). Dymeclin is thought to play a role in bone development and endochondral ossification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyggve-Melchior-Clausen syndrome | Loss-of-function mutations in DYM disrupt Golgi trafficking, impairing chondrocyte differentiation and bone growth. | OMIM #223800 |
| Smith-McCort dysplasia | Similar loss-of-function mechanism as DMC; allelic disorder with milder phenotype. | OMIM #607326 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Low |
| Bone | 8.7 | Low |
| Cartilage | 15.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Moderate expression |
| HEK293 | 8.5 | Moderate expression |
| HepG2 | 5.2 | Low expression |
| U2OS | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57*) | Nonsense | Rare | Premature stop; loss of function |
| c.742G>A (p.Gly248Arg) | Missense | Rare | Impaired protein function |
| c.1075delC (p.Leu359Trpfs*13) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DYM mutations are loss-of-function, leading to reduced or absent dymeclin activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • intracellular protein transport |
| • endochondral ossification | • bone development |
Pathways
• Golgi vesicle transport
• Skeletal development
Protein Summary
Dymeclin is a 669-amino acid protein localized to the Golgi apparatus. It is involved in vesicular trafficking and maintaining Golgi structure. Loss of dymeclin function disrupts chondrocyte maturation and leads to skeletal abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYM Knockout HEK293 Cell Line | EDJ-KQ13232 | Human | 54808 | Details Get a Quote |
| DYM Knockout A-549 Cell Line | EDJ-KQ42612 | Human | 54808 | Details Get a Quote |
| DYM Knockout HCT 116 Cell Line | EDJ-KQ42613 | Human | 54808 | Details Get a Quote |
| DYM Knockout HeLa Cell Line | EDJ-KQ42614 | Human | 54808 | Details Get a Quote |
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