MRPS2
Function
Required for mitoribosome formation and stability, and mitochondrial translation.
Involvement in disease
Combined oxidative phosphorylation deficiency 36
COXPD36
An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the universal ribosomal protein uS2 family.
Cellular localization
- Mitochondrion
Alternative names
CGI-91, MRPS2, Small ribosomal subunit protein uS2m, MRP-S2, S2mt