| UniProt Protein Function: | MRPS22: Defects in MRPS22 are the cause of combined oxidative phosphorylation deficiency type 5 (COXPD5). COXPD5 is an antenatal mitochondrial disease. Patients show edema, cardiomyopathy, tubulopathy, and hypotonia. |
| UniProt Protein Details: | Protein type:Mitochondrial; Ribosomal; Translation Chromosomal Location of Human Ortholog: 3q23 Cellular Component: mitochondrial inner membrane; mitochondrial ribosome; mitochondrial small ribosomal subunit; mitochondrion Molecular Function:structural constituent of ribosome Biological Process: mitochondrial translation; organelle organization and biogenesis Disease: Combined Oxidative Phosphorylation Deficiency 5 |
| NCBI Summary: | 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] |
| UniProt Code: | P82650 |
| NCBI GenInfo Identifier: | 13633893 |
| NCBI Gene ID: | 56945 |
| NCBI Accession: | P82650.1 |
| UniProt Secondary Accession: | P82650,Q9H3I1, |
| UniProt Related Accession: | P82650 |
| Molecular Weight: | 18,972 Da |
| NCBI Full Name: | 28S ribosomal protein S22, mitochondrial |
| NCBI Synonym Full Names: | mitochondrial ribosomal protein S22 |
| NCBI Official Symbol: | MRPS22 |
| NCBI Official Synonym Symbols: | GIBT; GK002; C3orf5; COXPD5; RPMS22; MRP-S22 |
| NCBI Protein Information: | 28S ribosomal protein S22, mitochondrial |
| UniProt Protein Name: | 28S ribosomal protein S22, mitochondrial |
| Protein Family: | 28S ribosomal protein |
| UniProt Gene Name: | MRPS22 |
| UniProt Entry Name: | RT22_HUMAN |
