Combined Oxidative Phosphorylation Deficiency 39 (COXPD39)

Alias:
Coxpd39
Gfm2-Related Combined Oxidative Phosphorylation Defect
Combined Oxidative Phosphorylation Defect Type 39
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Combined Oxidative Phosphorylation Deficiency 39, also known as coxpd39, is related to mitochondrial disease and combined oxidative phosphorylation deficiency 4. An important gene associated with Combined Oxidative Phosphorylation Deficiency 39 is GFM2 (GTP Dependent Ribosome Recycling Factor Mitochondrial 2), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include brain and cerebellum, and related phenotypes are delayed speech and language development and feeding difficulties in infancy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
6
22
3

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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