Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Covered on Genetics Home Reference: mitochondrial complex III deficiencyFrom NCBI Gene: Mitochondrial complex III deficiency, nuclear type 5From UniProt: Mitochondrial complex III deficiency, nuclear 5 (MC3DN5): A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. [MIM:615160]

     From NCBI Gene: The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015] From UniProt: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. The core protein 2 is required for the assembly of the complex.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• HNF-1A
• HNF-1
• Bach1
• AREB6
• Pax-5
• FOXC1
• c-Myb

Caution:

Does not seem to have a protease activity as it lack the zinc-binding site.

Molecular Function:

• Metalloendopeptidase Activity
• Zinc Ion Binding

Biological Processes:

• Aerobic Respiration
• Mitochondrial Electron Transport, Ubiquinol To Cytochrome C
• Oxidative Phosphorylation
• Protein Processing

*synonyms