SCO1 Gene - Cytochrome C Oxidase Assembly Factor
SCO1: Essential for Mitochondrial Copper Delivery and Cytochrome c Oxidase Assembly
Gene Information Card
| Symbol | SCO1 |
|---|---|
| Full Name | Synthesis of Cytochrome C Oxidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 6341 ncbi.nlm.nih.gov/gene/6341 |
| Ensembl ID | ENSG00000133028 |
| UniProt ID | O75880 |
| OMIM ID | 603644 |
| HGNC ID | 10603 |
| Aliases | SCO1, SCOD1, COX17, mitochondrial copper chaperone |
Description
The SCO1 gene encodes a mitochondrial copper chaperone essential for the assembly of cytochrome c oxidase (COX, Complex IV) in the mitochondrial respiratory chain. SCO1 is involved in copper delivery to the COX subunits COX2 and COX1, and its dysfunction leads to impaired oxidative phosphorylation, particularly in tissues with high energy demands such as liver and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency (COX deficiency) with hepatic failure and encephalopathy | Loss-of-function mutations in SCO1 impair copper insertion into cytochrome c oxidase, reducing COX activity and ATP production, leading to severe neonatal or infantile hepatic failure and encephalopathy. | OMIM #619377; ClinVar; multiple case reports |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | Similar mechanism as above, with additional cardiac involvement due to defective mitochondrial energy metabolism. | OMIM #619377; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Brain | 8.2 | Low |
| Skeletal Muscle | 7.5 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| K-562 | 9.1 | Lymphoblastoid cell line |
| HeLa | 8.7 | Cervical adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.520C>T (p.Arg174Trp) | Missense | Rare | Loss of function; reduced COX activity |
| c.364G>A (p.Gly122Ser) | Missense | Rare | Loss of function; impaired copper binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most SCO1 mutations are loss-of-function, leading to reduced or absent cytochrome c oxidase activity and mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported for SCO1.
Dominant Negative (DN)
No dominant-negative mutations reported; SCO1 deficiency is typically 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
SCO1 is a 301-amino acid mitochondrial inner membrane protein that functions as a copper chaperone, delivering copper to the CuA site of cytochrome c oxidase subunit 2 (COX2). It contains a thioredoxin-like domain and a conserved CxxxC motif essential for copper binding. SCO1 interacts with COX17 and SCO2 to facilitate copper transfer. Defects in SCO1 cause severe mitochondrial disease with hepatic and neurological involvement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ESCO1 Knockout HEK293 Cell Line | EDJ-KQ7471 | Human | 114799 | Details Get a Quote |
| ESCO1 Knockout A-549 Cell Line | EDJ-KQ32692 | Human | 114799 | Details Get a Quote |
| ESCO1 Knockout HCT 116 Cell Line | EDJ-KQ32693 | Human | 114799 | Details Get a Quote |
| ESCO1 Knockout HeLa Cell Line | EDJ-KQ32694 | Human | 114799 | Details Get a Quote |
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