Identity
HGNC
LOCATION
1q44
LOCUSID
ALIAS
FAM36A,MC4DN11
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: 116228
MIM: 614698
HGNC: 26970
Ensembl: ENSG00000203667
Variants:
dbSNP: 116228
ClinVar: 116228
TCGA: ENSG00000203667
COSMIC: COX20
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000203667 | ENST00000366528 | Q5RI15 |
| ENSG00000203667 | ENST00000411948 | Q5RI15 |
| ENSG00000203667 | ENST00000411948 | B3KM21 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37095481 | 2023 | Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review. | 1 |
| 37095481 | 2023 | Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review. | 1 |
| 33751098 | 2021 | Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy. | 6 |
| 33751098 | 2021 | Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy. | 6 |
| 30656193 | 2019 | Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. | 10 |
| 31079202 | 2019 | Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy. | 7 |
| 30656193 | 2019 | Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. | 10 |
| 31079202 | 2019 | Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy. | 7 |
| 29154948 | 2018 | The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. | 21 |
| 29154948 | 2018 | The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. | 21 |
| 24202787 | 2014 | Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. | 23 |
| 24403053 | 2014 | Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. | 52 |
| 24202787 | 2014 | Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. | 23 |
| 24403053 | 2014 | Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase. | 52 |
| 23125284 | 2013 | A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. | 42 |
Citation
Dessen P
COX20 (cytochrome c oxidase assembly factor COX20)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62040/cox20-(cytochrome-c-oxidase-assembly-factor-cox20)
