Mitochondrial Complex V Deficiency, Nuclear Type 5 (MC5DN5)

Alias:
Mitochondrial Complex V Deficiency
Mc5dn5
Mitochondrial Complex 5 Deficiency Nuclear Type 5
Mitochondrial Complex V Deficiency, Atp5f1d Type
Mitochondrial Complex V Deficiency
Mitochondrial Complex V Deficiency Nuclear Type 5
Mitochondrial Complex V Deficiency, Nuclear Type 5
Mi Complex V Deficiency
Atp Synthase Deficiency
Complex V Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Complex V Deficiency, Nuclear Type 5, also known as mitochondrial complex v deficiency, is related to mitochondrial complex v deficiency, nuclear type 3 and mitochondrial complex iv deficiency, nuclear type 5. An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 5 is ATP5F1D (ATP Synthase F1 Subunit Delta), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Organelle biogenesis and maintenance. Affiliated tissues include heart and eye, and related phenotypes are hypoglycemia and hyperammonemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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9
41
1

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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