MRPS25
Involvement in disease
Combined oxidative phosphorylation deficiency 50
COXPD50
An autosomal recessive, mitochondrial encephalomyopathy characterized by intrauterine growth retardation, poor overall growth, delayed psychomotor development, hypotonia, muscle weakness, progressive loss of ambulation, and mitochondrial oxidative phosphorylation deficiency in patient tissues. Brain imaging shows partial agenesis of the corpus callosum.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the mitochondrion-specific ribosomal protein mS25 family.
Cellular localization
- Mitochondrion
Alternative names
RPMS25, MRPS25, Small ribosomal subunit protein mS25, MRP-S25, S25mt