MRPL27
mitochondrial ribosomal protein L27
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 Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142736439 | 17:48,445,503 | C/T | — | uncertain significance |
| rs1039011080 | 17:48,445,595 | T/A | — | uncertain significance |
| rs372301849 | 17:48,445,616 | C/T | — | uncertain significance |
| rs1242923853 | 17:48,445,653 | C/A | — | uncertain significance |
| rs148980265 | 17:48,447,454 | T/C | — | uncertain significance |
| rs766522733 | 17:48,447,861 | C/T | — | uncertain significance |
| rs780170489 | 17:48,447,890 | T/C | — | uncertain significance |
| rs769745109 | 17:48,447,915 | C/T | — | uncertain significance |
| rs371289856 | 17:48,447,917 | G/A | — | uncertain significance |
| rs12451617 | 17:48,448,447 | G/A | downstream gene variant | — |
| rs374090666 | 17:48,450,513 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.