Identity
HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
DRE1,EBSSH,KRIP6
FUSION GENES
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: 54800
MIM: 611295
HGNC: 25947
Ensembl: ENSG00000114796
Variants:
dbSNP: 54800
ClinVar: 54800
TCGA: ENSG00000114796
COSMIC: KLHL24
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38474236 | 2024 | EBS in Children with De Novo Pathogenic Variants Disturbing Krt14. | 0 |
| 38474236 | 2024 | EBS in Children with De Novo Pathogenic Variants Disturbing Krt14. | 0 |
| 34740256 | 2022 | Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy. | 3 |
| 35031308 | 2022 | Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants. | 4 |
| 35975634 | 2022 | A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. | 1 |
| 34740256 | 2022 | Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy. | 3 |
| 35031308 | 2022 | Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants. | 4 |
| 35975634 | 2022 | A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation. | 1 |
| 30226531 | 2019 | Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases. | 3 |
| 30715372 | 2019 | Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. | 23 |
| 30226531 | 2019 | Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases. | 3 |
| 30715372 | 2019 | Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. | 23 |
| 29779254 | 2018 | Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. | 10 |
| 29779254 | 2018 | Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. | 10 |
| 28532758 | 2017 | The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility. | 12 |
Citation
Dessen P
KLHL24 (kelch like family member 24)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64968/klhl24-(kelch-like-family-member-24)
