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MIRAGE
combined oxidative phosphorylation deficiency 30

Summary
Synonym
  • COXPD30
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.
Super Class
autosomal recessive disease combined oxidative phosphorylation deficiency
Disease Ontology
DOID:0111471
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54931 TRMT10C tRNA methyltransferase 10C, mitochondrial RNase P subunit
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q7L0Y3 tRNA methyltransferase 10 homolog C
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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: December 8, 2025