MRPL3
Involvement in disease
Combined oxidative phosphorylation deficiency 9
COXPD9
A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the universal ribosomal protein uL3 family.
Cellular localization
- Mitochondrion
Alternative names
MRL3, RPML3, MRPL3, Large ribosomal subunit protein uL3m, L3mt, MRP-L3