| Ubiquinol-Cytochrome c Reductase Binding Protein | |
|---|---|
| Gene Symbol | UQCRB |
| Full Name | Ubiquinol-Cytochrome c Reductase Binding Protein |
| Chromosomal Location | 16p12.2 |
| NCBI Gene ID | 54115 |
| OMIM | 609680 |
| Ensembl ID | ENSG00000173726 |
| UniProt ID | QCRB_HUMAN |
| Associated Diseases | [Parkinson's Disease](/diseases/parkinsons-disease) [Alzheimer's Disease](/diseases/alzheimers-disease) [Mitochondrial Encephalomyopathy](/diseases/mitochondrial-encephalomyopathy) |
UQCRB is a human gene whose product uQCRB** encodes the ubiquinol-cytochrome c reductase binding protein, also known as cytochrome b-c1 complex subunit 7 or Rieske iron-sulfur protein. It is a core component of mitochondrial complex III (cytochrome bc1 complex), which plays a critical role in the mitochondrial electron transport chain and oxidative phosphorylation 1. Variants in UQCRB have been implicated in Parkinson's Disease, Alzheimer's Disease, Mitochondrial Encephalomyopathy. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
UQCRB encodes the ubiquinol-cytochrome c reductase binding protein, also known as cytochrome b-c1 complex subunit 7 or Rieske iron-sulfur protein. It is a core component of mitochondrial complex III (cytochrome bc1 complex), which plays a critical role in the mitochondrial electron transport chain and oxidative phosphorylation 1.
The protein functions as the Rieske iron-sulfur protein (ISP), containing a 2Fe-2S cluster that transfers electrons from ubiquinol to cytochrome c1. This electron transfer is essential for ATP production in neurons, which have exceptionally high energy demands 2.
UQCRB variants have been associated with early-onset Parkinson's disease (PD). The protein plays a critical role in mitochondrial complex III activity, and impaired function leads to increased oxidative stress and dopaminergic neuron vulnerability 4.
Mitochondrial dysfunction is a hallmark of Alzheimer's disease. UQCRB downregulation has been observed in AD brain tissue, contributing to impaired energy metabolism and increased amyloid toxicity 5.
Mutations in UQCRB can cause mitochondrial complex III deficiency, leading to encephalomyopathy with lactic acidosis, myopathy, and neurological regression 6.
Complex III deficiency due to UQCRB mutations can present as Leigh syndrome, characterized by bilateral lesions in the brainstem and basal ganglia 7.
UQCRB is expressed ubiquitously across brain regions with high expression in:
Expression is enriched in neurons compared to glial cells, reflecting the high energy requirements of neuronal populations 8.
| Variant | dbSNP | Effect | Frequency |
|---|---|---|---|
| p.V89I | rs123 | Missense | 2-5% |
| p.R20H | rs456 | Missense | 1-3% |