Isolated Complex Iii Deficiency

Alias:
Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency
Isolated Coenzyme Q-Cytochrome C Reductase Deficiency
Isolated Ubiquinone-Cytochrome C Reductase Deficiency
Isolated Coq-Cytochrome C Reductase Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Complex Iii Deficiency, also known as isolated mitochondrial respiratory chain complex iii deficiency, is related to mitochondrial complex iii deficiency and leigh syndrome. An important gene associated with Isolated Complex Iii Deficiency is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver, and related phenotype is Decreased shRNA abundance.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Mit
Newborn
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10
37
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Medical Symptom

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Gene & Mutation

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Disease Model

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References Literature

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