UQCC6 — ubiquinol-cytochrome c reductase complex assembly factor 6

5 sources retrieved · Most recent: April 2026 · Index updated 5 months ago

14PubMed Papers

#16,076 · top 83% of 19K genes

20Diseases

top 81%

0Drugs

0Pathogenic Variants

Experimental GO EvidenceSwiss-Prot Reviewed

protein bindingmitochondrial respiratory chain complex IV assemblymitochondrial respiratory chain complex III assemblymitochondrionmitochondrial complex I deficiency, nuclear type 24Glycogen storage disease due to hepatic glycogen synthase deficiencyglycogen storage disorder due to hepatic glycogen synthase deficiencyMitochondrial myopathy

AI Summary

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ubiquinol-cytochrome c reductase complex assembly factor 6

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

mitochondrial complex I deficiency, nuclear type 24Open Targets

0.04Suggestive

Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets

0.04Suggestive

glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets

0.04Suggestive

autosomal dominant mitochondrial myopathy with exercise intoleranceOpen Targets

0.03Suggestive

Mitochondrial myopathyOpen Targets

0.03Suggestive

pyruvate dehydrogenase phosphatase deficiencyOpen Targets

0.03Suggestive

mitochondrial complex IV deficiency, nuclear type 19Open Targets

0.03Suggestive

venous thromboembolismOpen Targets

0.02Suggestive

inborn mitochondrial metabolism disorderOpen Targets

0.01Suggestive

mitochondrial diseaseOpen Targets

0.01Suggestive

autism spectrum disorderOpen Targets

0.00Suggestive

breast cancerOpen Targets

0.00Suggestive

breast carcinomaOpen Targets

0.00Suggestive

VertigoOpen Targets

0.00Suggestive

lactic acidosisOpen Targets

0.00Suggestive

respiratory system disorderOpen Targets

0.00Suggestive

non-small cell lung carcinomaOpen Targets

0.00Suggestive

neurodevelopmental disorderOpen Targets

0.00Suggestive

neuromuscular diseaseOpen Targets

0.00Suggestive

hepatitis B virus induced hepatocellular carcinomaOpen Targets

0.00Suggestive

Pathogenic Variants

No pathogenic variants reported on ClinVar for this gene.

Tissue Expression6 tissues

Brain

100%

Ovary

76%

Heart

75%

Liver

57%

Lung

45%

Bone Marrow

36%

Gene Interaction Network6 neighbors

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q69YU5

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ConstraintgnomAD v4.1

LOEUFⓘ

1.88LoF Tolerant

pLIⓘ

0.17Tolerant

Observed/Expected LoF0.88 [0.25–1.88]

Rankings2 dim

Where UQCC6 stands among ~20K protein-coding genes

#16,038of 20,598
Most Researched14
#17,092of 17,882
Most Constrained (LOEUF)1.88