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: 22845
MIM: 610746
HGNC: 23406
Ensembl: ENSG00000175283
Variants:
dbSNP: 22845
ClinVar: 22845
TCGA: ENSG00000175283
COSMIC: DOLK
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000175283 | ENST00000372586 | Q9UPQ8 |
| ENSG00000175283 | ENST00000372586 | A0A0S2Z597 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32250540 | 2020 | Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency. | 2 |
| 32250540 | 2020 | Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency. | 2 |
| 28816422 | 2017 | Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. | 6 |
| 28816422 | 2017 | Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. | 6 |
| 22242004 | 2011 | Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. | 61 |
| 22242004 | 2011 | Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. | 61 |
| 17273964 | 2007 | A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. | 33 |
| 17273964 | 2007 | A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. | 33 |
| 16923818 | 2006 | Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site. | 18 |
| 16923818 | 2006 | Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site. | 18 |
Citation
Dessen P
DOLK (dolichol kinase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62596/dolk-(dolichol-kinase)
