MRPL17
mitochondrial ribosomal protein L17
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 39S subunit protein. [provided by RefSeq, Jul 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764140135 | 11:6,703,363 | T/G | — | uncertain significance |
| rs148446106 | 11:6,703,388 | G/C | — | uncertain significance |
| rs2493885107 | 11:6,703,469 | A/T | — | likely benign |
| rs190216103 | 11:6,703,508 | G/C | — | uncertain significance |
| rs555831023 | 11:6,703,527 | C/T | — | uncertain significance |
| rs773123343 | 11:6,703,569 | C/T | — | uncertain significance |
| rs1299496944 | 11:6,704,409 | T/C | — | uncertain significance |
| rs2493887375 | 11:6,704,439 | C/T | — | uncertain significance |
| rs762631257 | 11:6,704,476 | T/A | — | likely benign |
| rs752868166 | 11:6,704,495 | A/T | — | uncertain significance |
| rs756130727 | 11:6,704,496 | T/C | — | uncertain significance |
| rs201101155 | 11:6,704,524 | G/A | — | uncertain significance |
| rs558880237 | 11:6,704,591 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.