MRPS22
Involvement in disease
Combined oxidative phosphorylation deficiency 5
COXPD5
A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia.
None
The disease is caused by variants affecting the gene represented in this entry.
Ovarian dysgenesis 7
ODG7
A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG7 is an autosomal recessive condition.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the mitochondrion-specific ribosomal protein mS22 family.
Cellular localization
- Mitochondrion
Alternative names
C3orf5, RPMS22, GK002, MRPS22, Small ribosomal subunit protein mS22, MRP-S22, S22mt