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: 84277
MIM: 618202
HGNC: 16410
Ensembl: ENSG00000176410
Variants:
dbSNP: 84277
ClinVar: 84277
TCGA: ENSG00000176410
COSMIC: DNAJC30
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000176410 | ENST00000395176 | Q96LL9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36939934 | 2023 | Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. | 4 |
| 37579815 | 2023 | Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene. | 1 |
| 38139324 | 2023 | DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients. | 1 |
| 36939934 | 2023 | Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. | 4 |
| 37579815 | 2023 | Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene. | 1 |
| 38139324 | 2023 | DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients. | 1 |
| 35091433 | 2022 | DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy. | 9 |
| 35091433 | 2022 | DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy. | 9 |
| 33465056 | 2021 | Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. | 61 |
| 33465056 | 2021 | Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. | 61 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62569/dnajc30-(dnaj-heat-shock-protein-family-(hsp40)-member-c30)
