UQCC6: A Mitochondrial Complex III Assembly Factor with Emerging Links to Metabolic and Neurological Disorders
Comprehensive genomic, proteomic, and clinical insights into UQCC6 (ubiquinol-cytochrome c reductase complex assembly factor 6), a nuclear-encoded mitochondrial protein implicated in respiratory chain function and disease.
Gene Information Card
| Symbol | UQCC6 |
|---|---|
| Full Name | ubiquinol-cytochrome c reductase complex assembly factor 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 100287632 ncbi.nlm.nih.gov/gene/100287632 |
| Ensembl ID | ENSG00000204070 |
| UniProt ID | A6NKF1 |
| OMIM ID | 620121 |
| HGNC ID | 43822 |
| Aliases | C1orf57, MGC16169 |
Description
UQCC6 (ubiquinol-cytochrome c reductase complex assembly factor 6) is a nuclear-encoded mitochondrial protein that plays a role in the assembly of mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase). It is localized to the mitochondrion and is involved in the biogenesis of complex III, which is essential for oxidative phosphorylation. UQCC6 is expressed across various tissues, with higher levels in metabolically active organs. Mutations in UQCC6 have been associated with mitochondrial complex III deficiency and related clinical phenotypes, including neurological and muscular symptoms. The gene is located on chromosome 1q42.13 and is conserved across species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex III deficiency, nuclear type 12 | Pathogenic variants in UQCC6 impair complex III assembly, leading to respiratory chain dysfunction and reduced ATP production. | ClinVar and OMIM (OMIM: 620121) list pathogenic variants; case reports in literature. |
| Leigh syndrome (possible) | Mitochondrial dysfunction due to complex III deficiency may contribute to neurodegenerative changes characteristic of Leigh syndrome. | Inferred from mitochondrial disease phenotype; not directly curated in ClinVar for UQCC6. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Skeletal Muscle | 10.1 | Medium |
| Brain | 6.5 | Low |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.2 | Hepatocellular carcinoma cell line |
| K562 | 5.4 | Chronic myelogenous leukemia |
| HeLa | 7.1 | Cervical adenocarcinoma |
| A549 | 6.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Ter) | Nonsense | Rare (MAF <0.01) | Loss of function; likely pathogenic |
| c.344G>A (p.Arg115His) | Missense | Rare (MAF <0.01) | Uncertain significance; may affect protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the protein are expected to cause loss of function, leading to complex III assembly defects.
Gain of Function (GOF)
No evidence of gain-of-function mutations in UQCC6.
Dominant Negative (DN)
No evidence of dominant-negative effects; UQCC6 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex III assembly | • protein binding |
| • mitochondrion | • ubiquinol-cytochrome-c reductase activity |
Pathways
• Mitochondrial complex III assembly
• Oxidative phosphorylation
Protein Summary
UQCC6 is a 21.9 kDa protein consisting of 190 amino acids. It is localized to the mitochondrial inner membrane and is involved in the assembly of complex III (ubiquinol-cytochrome c reductase). The protein contains a transmembrane domain and is part of the UQCC family of assembly factors. UQCC6 interacts with other assembly factors such as UQCC1 and UQCC2 to facilitate the incorporation of catalytic subunits into the complex. Defects in UQCC6 lead to complex III deficiency, resulting in impaired electron transport and ATP synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UQCC6 Knockout HEK293 Cell Line | EDJ-KQ16043 | Human | 728568 | Details Get a Quote |
| UQCC6 Knockout A-549 Cell Line | EDJ-KQ47161 | Human | 728568 | Details Get a Quote |
| UQCC6 Knockout HCT 116 Cell Line | EDJ-KQ47162 | Human | 728568 | Details Get a Quote |
| UQCC6 Knockout HeLa Cell Line | EDJ-KQ47163 | Human | 728568 | Details Get a Quote |
