MRPS22

Chr 3AR

mitochondrial ribosomal protein S22

Also known as: C3orf5, COXPD5, GIBT, GK002, MRP-S22, ODG7, RPMS22, mS22

NCBI Gene: 56945 ENSG00000175110 UniProt: P82650 OMIM: 605810

MRPS22 encodes a protein component of the mitochondrial ribosome small subunit (28S) that is essential for mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency 5 and ovarian dysgenesis 7 through an autosomal recessive inheritance pattern. The pathogenic mechanism involves gain-of-function effects that disrupt normal mitochondrial ribosome function and subsequent oxidative phosphorylation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…