MRPL12
Function
As a component of the mitochondrial large ribosomal subunit, it plays a role in mitochondrial translation (PubMed:23603806). Associates with mitochondrial RNA polymerase to activate transcription.
Involvement in disease
Combined oxidative phosphorylation deficiency 45
COXPD45
An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the bacterial ribosomal protein bL12 family.
Cellular localization
- Mitochondrion matrix
Alternative names
MRPL7, RPML12, MRPL12, Large ribosomal subunit protein bL12m, 5c5-2, L12mt, MRP-L12