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Target intelligence / Profile preview
Ubiquinol-cytochrome c reductase complex assembly factor 1 (UQCC1)
- Target
- UQCC1
- Molecular classification
- Mitochondrial transmembrane protein, Complex III assembly factor, Other (not a receptor, enzyme, ion channel, transporter, or transcription factor)
01
Overview
Ubiquinol-cytochrome c reductase complex assembly factor 1 (UQCC1) is a mitochondria-localized transmembrane protein essential for the proper assembly and functioning of complex III in the electron transport chain. UQCC1 binds to newly synthesized cytochrome b, aiding its stabilization and incorporation into the assembling complex III. It interacts with another assembly factor, UQCC2, and both are critical for cytochrome b biogenesis. Deficiency or mutations in UQCC1 can cause complex III deficiency, resulting in impaired cellular energy production and severe mitochondrial diseases. UQCC1 is also associated with phenotypic traits such as variation in height and susceptibility to osteoarthritis but is currently not a direct therapeutic target for any approved drugs
- Other names
- Basic FGF-repressed Zic-binding protein (BFZB, bFZb)CBP3C20orf44UQCCCytochrome B protein synthesis 3 homolog (S. cerevisiae)FLJ10850
02
Mechanism of action
Not applicable; there are no drugs with a defined mechanism of action targeting UQCC1 itself
03
Biological functions
Assembly of mitochondrial complex IIIStabilization and translation of cytochrome bRespiratory electron transport/oxidative phosphorylationMitochondrial energy metabolism
04
Disease associations
Mitochondrial diseaseCombined oxidative phosphorylation deficiency 8Complex III deficiencyPossibly related to variation in human height and osteoarthritis
05
Safety considerations
Therapeutic challenges would involve risk of impairing mitochondrial energy metabolism, leading to secondary effects such as lactic acidosis, growth retardation, and multi-organ dysfunction, as seen in congenital complex III deficiency
06
Biomarkers
Deficiency or loss of UQCC1 may serve as a biomarker for complex III deficiency in mitochondrial disease
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