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: 118487
MIM: 608842
HGNC: 23518
Ensembl: ENSG00000172586
Variants:
dbSNP: 118487
ClinVar: 118487
TCGA: ENSG00000172586
COSMIC: CHCHD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000172586 | ENST00000372833 | Q96BP2 |
| ENSG00000172586 | ENST00000372837 | A6NJX6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 24137763 | 2010 | Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. | 9 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 24137763 | 2010 | Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. | 9 |
| 15177562 | 2004 | C2360, a nuclear protein expressed in human proliferative cytotrophoblasts, is a representative member of a novel protein family with a conserved coiled coil-helix-coiled coil-helix domain. | 7 |
| 15177562 | 2004 | C2360, a nuclear protein expressed in human proliferative cytotrophoblasts, is a representative member of a novel protein family with a conserved coiled coil-helix-coiled coil-helix domain. | 7 |
Citation
Dessen P
CHCHD1 (coiled-coil-helix-coiled-coil-helix domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61789/chchd1-(coiled-coil-helix-coiled-coil-helix-domain-containing-1)
