Mitochondrial Complex I Deficiency, Nuclear Type 23 (MC1DN23)

Alias:
Mc1dn23
Mitochondrial Complex 1 Deficiency, Nuclear Type 23
Nuclear Type Mitochondrial Complex I Deficiency 23
Mi Complex I Deficiency, Nuclear Type 23
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Complex I Deficiency, Nuclear Type 23, is also known as mc1dn23. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 23 is NDUFA12 (NADH:Ubiquinone Oxidoreductase Subunit A12). Affiliated tissues include liver and skeletal muscle, and related phenotypes are scoliosis and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
3
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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