MRPS23
Involvement in disease
Combined oxidative phosphorylation deficiency 46
COXPD46
An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the mitochondrion-specific ribosomal protein mS23 family.
Cellular localization
- Mitochondrion
Alternative names
CGI-138, HSPC329, MRPS23, Small ribosomal subunit protein mS23, MRP-S23, S23mt