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MIRAGE
combined oxidative phosphorylation deficiency 24

Summary
Synonym
  • COXPD24
Definition
A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.
Super Class
autosomal recessive disease combined oxidative phosphorylation deficiency
Disease Ontology
DOID:0111485
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79731 NARS2 asparaginyl-tRNA synthetase 2, mitochondrial
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q96I59 Asparaginyl-tRNA synthetase
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026