COX20
Cytochrome c oxidase assembly factor 20
Gene Information Card
| Symbol | COX20 |
|---|---|
| Full Name | Cytochrome c oxidase assembly factor 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 116228 ncbi.nlm.nih.gov/gene/116228 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q5RI15 |
| OMIM ID | 614698 |
| HGNC ID | 26970 |
| Aliases | FAM36A, COX20P1 |
Description
COX20 encodes a mitochondrial protein essential for the assembly of cytochrome c oxidase (complex IV of the mitochondrial respiratory chain). It acts as a chaperone for the COX2 subunit, facilitating its insertion into the mitochondrial inner membrane and subsequent assembly into the functional complex. Mutations in COX20 cause mitochondrial complex IV deficiency, leading to neurological and muscular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 11 | Loss-of-function mutations impair COX2 maturation and complex IV assembly, reducing respiratory chain activity | OMIM #619053, ClinVar |
| COX20-related mitochondrial disease | Biallelic pathogenic variants disrupt COX20 chaperone function, leading to COX2 instability and complex IV deficiency | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 8.2 | Medium |
| Skeletal muscle | 6.5 | Medium |
| Liver | 4.1 | Low |
| Brain | 5.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.1 | Cervical carcinoma |
| HEK293 | 6.8 | Embryonic kidney |
| HepG2 | 4.5 | Hepatocellular carcinoma |
| SH-SY5Y | 5.9 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154A>G (p.Thr52Ala) | Missense | Rare | Impaired COX2 chaperone function, reduced complex IV activity |
| c.199C>T (p.Arg67Trp) | Missense | Rare | Loss of COX20 stability, mitochondrial dysfunction |
| c.41_42del (p.Leu14Profs*12) | Frameshift | Rare | Premature truncation, complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause COX20 deficiency, leading to mitochondrial complex IV assembly failure and reduced respiratory capacity.
Gain of Function (GOF)
No gain-of-function mutations reported for COX20.
Dominant Negative (DN)
No dominant-negative mutations reported for COX20.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Cytochrome-c oxidase activity |
| • Mitochondrial respiratory chain complex IV assembly | • Protein chaperone |
| • Metal ion binding |
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COX20 is a 12 kDa mitochondrial inner membrane protein that functions as a chaperone for the COX2 subunit of cytochrome c oxidase. It binds newly synthesized COX2, facilitating its insertion into the membrane and subsequent assembly into complex IV. Defects in COX20 lead to mitochondrial complex IV deficiency, manifesting as encephalopathy, hypotonia, and lactic acidosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX20 Knockout HEK293 Cell Line | EDJ-KQ7555 | Human | 116228 | Details Get a Quote |
| COX20 Knockout A-549 Cell Line | EDJ-KQ32857 | Human | 116228 | Details Get a Quote |
| COX20 Knockout HCT 116 Cell Line | EDJ-KQ32858 | Human | 116228 | Details Get a Quote |
| COX20 Knockout HeLa Cell Line | EDJ-KQ32859 | Human | 116228 | Details Get a Quote |
