MRPL48
mitochondrial ribosomal protein L48
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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs190011892 | 11:73,508,656 | C/A | regulatory region variant | — |
| rs1723832 | 11:73,511,893 | G/A | intron variant | — |
| rs1947497408 | 11:73,519,366 | C/T | — | uncertain significance |
| rs367770806 | 11:73,536,776 | C/T | — | uncertain significance |
| rs763781166 | 11:73,536,777 | G/A | — | uncertain significance |
| rs780130166 | 11:73,536,804 | G/A | — | uncertain significance |
| rs561678179 | 11:73,540,416 | T/C | — | — |
| rs920475515 | 11:73,555,964 | G/A | — | uncertain significance |
| rs375332756 | 11:73,574,223 | G/A | — | uncertain significance |
| rs202224445 | 11:73,574,286 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.