MRPL23
mitochondrial ribosomal protein L23
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. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768793584 | 11:1,968,596 | G/C | — | uncertain significance |
| rs375605257 | 11:1,972,142 | C/T | — | uncertain significance |
| rs2495235731 | 11:1,972,181 | T/G | — | uncertain significance |
| rs199601271 | 11:1,972,220 | G/A | — | uncertain significance |
| rs117034794 | 11:1,973,349 | G/A | — | benign |
| rs141169529 | 11:1,973,412 | G/A | — | uncertain significance |
| rs753557034 | 11:1,973,422 | G/A | — | uncertain significance |
| rs1223735915 | 11:1,973,427 | C/T | — | uncertain significance |
| rs2495241120 | 11:1,973,431 | T/A | — | uncertain significance |
| rs776496538 | 11:1,974,057 | C/T | — | uncertain significance |
| rs189661478 | 11:1,977,016 | G/C | intron variant | — |
| rs149980789 | 11:1,977,505 | C/T | — | uncertain significance |
| rs2495254963 | 11:1,977,510 | C/A | — | uncertain significance |
| rs140352683 | 11:1,977,613 | C/T | — | uncertain significance |
| rs759082420 | 11:1,977,616 | G/A | — | uncertain significance |
| rs144125617 | 11:1,977,618 | C/T | — | uncertain significance |
| rs201959963 | 11:1,977,619 | G/A | — | uncertain significance |
| rs10769945 | 11:1,985,127 | C/T | intron variant | — |
| rs217243 | 11:1,985,287 | C/T | regulatory region variant | — |
| rs1635153 | 11:2,013,073 | C/A | regulatory region variant | — |
| rs217227 | 11:2,014,227 | C/G | regulatory region variant | — |
| rs217231 | 11:2,015,569 | G/C | regulatory region variant | — |
| rs3741219 | 11:2,016,619 | A/G | coding sequence variant | — |
| rs3741216 | 11:2,016,717 | T/A | coding sequence variant | benign |
| rs217727 | 11:2,016,908 | G/A | coding sequence variant | — |
| rs3024270 | 11:2,017,439 | C/T | downstream gene variant | — |
| rs2067051 | 11:2,018,168 | C/A | coding sequence variant | — |
| rs2839698 | 11:2,018,853 | G/C | coding sequence variant | — |
| rs2251375 | 11:2,019,496 | C/A | regulatory region variant | — |
| rs2071095 | 11:2,020,627 | C/A | upstream gene variant | — |
| rs2107425 | 11:2,021,075 | C/T | regulatory region variant | — |
| rs10732516 | 11:2,021,206 | G/A | regulatory region variant | — |
| rs11042170 | 11:2,021,625 | C/T | upstream gene variant | — |
| rs2735971 | 11:2,021,649 | T/C | upstream gene variant | — |
| rs2735970 | 11:2,021,815 | T/C | regulatory region variant | — |
| rs4930101 | 11:2,021,859 | G/T | regulatory region variant | — |
| rs4930103 | 11:2,024,544 | G/A | upstream gene variant | — |
| rs4929984 | 11:2,024,683 | C/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.