MRPS14
Involvement in disease
Combined oxidative phosphorylation deficiency 38
COXPD38
An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the universal ribosomal protein uS14 family.
Cellular localization
- Mitochondrion
Alternative names
Small ribosomal subunit protein uS14m, MRP-S14, S14mt, MRPS14