MRPL24
mitochondrial ribosomal protein L24
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 which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs368692555 | 1:156,707,218 | C/T | — | uncertain significance |
| rs372521815 | 1:156,707,446 | G/A | — | uncertain significance |
| rs761140936 | 1:156,707,893 | G/A | — | uncertain significance |
| rs780225325 | 1:156,708,172 | C/T | — | uncertain significance |
| rs747079517 | 1:156,708,173 | G/A | — | uncertain significance |
| rs199715329 | 1:156,708,176 | T/C | — | uncertain significance |
| rs188054107 | 1:156,708,315 | G/C | — | likely benign |
| rs2525108727 | 1:156,708,340 | C/A | — | uncertain significance |
| rs373072749 | 1:156,708,372 | C/T | — | uncertain significance |
| rs377386411 | 1:156,708,375 | C/T | — | uncertain significance |
| rs781647106 | 1:156,708,463 | T/C | — | uncertain significance |
| rs142832371 | 1:156,709,523 | A/C | downstream gene variant | — |
| rs41267419 | 1:156,711,374 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.