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: 11152
MIM: 300526
HGNC: 28912
Ensembl: ENSG00000196998
Variants:
dbSNP: 11152
ClinVar: 11152
TCGA: ENSG00000196998
COSMIC: WDR45
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cellular responses to stress | REACTOME | R-HSA-2262752 |
| Macroautophagy | REACTOME | R-HSA-1632852 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36940732 | 2023 | WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism. | 1 |
| 37819743 | 2023 | Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy. | 0 |
| 36940732 | 2023 | WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism. | 1 |
| 37819743 | 2023 | Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy. | 0 |
| 34818117 | 2022 | Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. | 5 |
| 34837396 | 2022 | A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation. | 12 |
| 34818117 | 2022 | Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases. | 5 |
| 34837396 | 2022 | A neurodegeneration gene, WDR45, links impaired ferritinophagy to iron accumulation. | 12 |
| 33251766 | 2021 | Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review. | 0 |
| 34325486 | 2021 | Autophagic defects observed in fibroblasts from a patient with β-propeller protein-associated neurodegeneration. | 4 |
| 34769084 | 2021 | Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts. | 3 |
| 33251766 | 2021 | Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review. | 0 |
| 34325486 | 2021 | Autophagic defects observed in fibroblasts from a patient with β-propeller protein-associated neurodegeneration. | 4 |
| 34769084 | 2021 | Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts. | 3 |
| 32387008 | 2020 | Phenotypic and Imaging Spectrum Associated With WDR45. | 11 |
Citation
Dessen P
WDR45 (WD repeat domain 45)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75715/wdr45-(wd-repeat-domain-45)
