SCO2 Gene - Cytochrome C Oxidase Assembly Factor
SCO2: Essential for Mitochondrial Respiratory Chain Complex IV Assembly and Copper Homeostasis
Gene Information Card
| Symbol | SCO2 |
|---|---|
| Full Name | Synthesis of Cytochrome C Oxidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 9997 ncbi.nlm.nih.gov/gene/9997 |
| Ensembl ID | ENSG00000130489 |
| UniProt ID | O43819 |
| OMIM ID | 604272 |
| HGNC ID | 10604 |
| Aliases | SCO1L, COX17, CEMCOX1 |
Description
The SCO2 gene encodes a mitochondrial copper chaperone essential for the assembly of cytochrome c oxidase (COX, complex IV) of the mitochondrial respiratory chain. SCO2 is involved in copper delivery to the COX2 subunit, enabling proper electron transport and ATP production. Mutations in SCO2 are a common cause of early-onset fatal cardioencephalomyopathy due to COX deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fatal infantile cardioencephalomyopathy due to COX deficiency | Loss-of-function mutations impair copper insertion into COX2, disrupting complex IV assembly and mitochondrial energy production. | ClinVar, OMIM #604377 |
| Mitochondrial complex IV deficiency | Defective SCO2 leads to reduced COX activity, causing multisystem disorders including hypertrophic cardiomyopathy, hypotonia, and lactic acidosis. | OMIM #220110, NCBI Gene |
| Leigh syndrome (rare) | Some SCO2 mutations present with Leigh-like neuropathology due to severe COX deficiency. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Liver | 6.1 | Low |
| Brain | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical carcinoma |
| HepG2 | 7.8 | Hepatocellular carcinoma |
| K562 | 6.5 | Leukemia |
| A549 | 5.9 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.418G>A (p.Glu140Lys) | Missense | Common pathogenic variant | Loss of function; reduced COX assembly |
| c.520C>T (p.Arg174Trp) | Missense | Rare | Impaired copper binding |
| c.1541G>A (p.Gly514Asp) | Missense | Reported in Leigh syndrome | Decreased COX activity |
Mutation functional classification
Loss of Function (LOF)
Most SCO2 mutations are loss-of-function, leading to reduced or absent COX activity due to defective copper chaperoning.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanism described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial complex IV assembly (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Copper homeostasis (KEGG: hsa04978)
Protein Summary
SCO2 is a 266-amino acid mitochondrial inner membrane protein that functions as a copper chaperone specifically for cytochrome c oxidase subunit 2 (COX2). It contains a conserved thioredoxin-like domain that binds copper and facilitates its transfer to the COX2 copper A (CuA) site. SCO2 interacts with SCO1 and COX17 to coordinate copper delivery. Deficiency results in isolated COX deficiency, most severely affecting tissues with high oxidative demand such as heart and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESCO2 Knockout HEK293 Cell Line | EDJ-KQ13327 | Human | 157570 | Details Get a Quote |
| ESCO2 Knockout A-549 Cell Line | EDJ-KQ42796 | Human | 157570 | Details Get a Quote |
| ESCO2 Knockout HCT 116 Cell Line | EDJ-KQ42797 | Human | 157570 | Details Get a Quote |
| ESCO2 Knockout HeLa Cell Line | EDJ-KQ42798 | Human | 157570 | Details Get a Quote |
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