Target intelligence / Profile preview

Mitochondrial ribosomal protein S22 (MRPS22)

Target
MRPS22
Molecular classification
Other (Mitochondrial ribosomal protein), Ribosomal Protein
01

Overview

Mitochondrial ribosomal protein S22 (MRPS22) is a nuclear-encoded protein that forms part of the small (28S) subunit of the mitochondrial ribosome, essential for the assembly and stability of 12S rRNA. It plays a crucial role in mitochondrial protein synthesis, which is required to produce polypeptides that are components of the mitochondrial respiratory chain complexes (except complex II). Disruption of MRPS22 function, such as by deleterious mutations, leads to impaired assembly of the mitochondrial small ribosomal subunit, decreased 12S rRNA levels, and defective mitochondrial translation, resulting in combined oxidative phosphorylation deficiencies. MRPS22 is also implicated in tissue-specific processes such as ovarian development: biallelic pathogenic variants in MRPS22 can cause primary ovarian insufficiency and ovarian dysgenesis. Despite its essential molecular role, MRPS22 is not considered a classical therapeutic target (such as a receptor, enzyme, or transporter)[1][2][3][4][5][6][7][9].

Other names
COXPD5GIBTMRP-S22GK002ODG7C3ORF5RPMS22
02

Biological functions

Mitochondrial protein synthesisAssembly and stability of mitochondrial ribosome small (28S) subunitMaintenance of 12S rRNA levelsCellular respiration (via translation of mitochondrial-encoded genes)
03

Disease associations

Combined oxidative phosphorylation deficiencyOvarian dysgenesis (Ovarian Dysgenesis 7)Primary ovarian insufficiencyMitochondrial diseaseDevelopmental defects (failure of implantation, failed gastrulation in mouse models)

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