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: 131377
MIM: 615340
HGNC: 30372
Ensembl: ENSG00000157119
Variants:
dbSNP: 131377
ClinVar: 131377
TCGA: ENSG00000157119
COSMIC: KLHL40
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000157119 | ENST00000287777 | Q2TBA0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35379254 | 2022 | Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. | 1 |
| 35379254 | 2022 | Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. | 1 |
| 33978323 | 2021 | A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. | 4 |
| 33978323 | 2021 | A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. | 4 |
| 32352246 | 2020 | The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. | 9 |
| 32352246 | 2020 | The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. | 9 |
| 27762439 | 2016 | Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. | 7 |
| 27762439 | 2016 | Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. | 7 |
| 24960163 | 2014 | KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. | 63 |
| 24960163 | 2014 | KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. | 63 |
| 23746549 | 2013 | Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. | 95 |
| 23746549 | 2013 | Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. | 95 |
Citation
Dessen P
KLHL40 (kelch like family member 40)
Atlas Genet Cytogenet Oncol Haematol. 2013-11-01
Online version: http://atlasgeneticsoncology.org/gene/53574/klhl40-(kelch-like-family-member-40)
