Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54808
MIM: 607461
HGNC: 21317
Ensembl: ENSG00000141627
Variants:
dbSNP: 54808
ClinVar: 54808
TCGA: ENSG00000141627
COSMIC: DYM
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32886330 | 2020 | A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features. | 3 |
| 32886330 | 2020 | A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features. | 3 |
| 25652408 | 2015 | Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. | 17 |
| 25652408 | 2015 | Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans. | 17 |
| 24300288 | 2014 | A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. | 5 |
| 24300288 | 2014 | A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. | 5 |
| 20865280 | 2011 | Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. | 2 |
| 21280149 | 2011 | Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. | 14 |
| 20865280 | 2011 | Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation. | 2 |
| 21280149 | 2011 | Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. | 14 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20546612 | 2010 | The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. | 28 |
| 20555340 | 2010 | An association study between the dymeclin gene and schizophrenia in the Japanese population. | 1 |
| 20555340 | 2010 | An association study between the dymeclin gene and schizophrenia in the Japanese population. | 1 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
DYM (dymeclin)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62687/dym-(dymeclin)
