MRPL34
mitochondrial ribosomal protein L34
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 Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs67397200 | 19:17,401,404 | C/G | downstream gene variant | — |
| rs12974508 | 19:17,401,521 | C/A | — | — |
| rs370367305 | 19:17,416,740 | T/G | — | uncertain significance |
| rs760544334 | 19:17,416,980 | T/C | — | uncertain significance |
| rs759422003 | 19:17,416,986 | C/A | — | uncertain significance |
| rs2513162724 | 19:17,417,004 | T/C | — | uncertain significance |
| rs2513162748 | 19:17,417,010 | A/G | — | uncertain significance |
| rs895458449 | 19:17,417,013 | C/T | — | uncertain significance |
| rs1228371566 | 19:17,417,018 | G/A | — | uncertain significance |
| rs1225909222 | 19:17,417,019 | G/T | — | uncertain significance |
| rs752113399 | 19:17,417,022 | T/C | — | uncertain significance |
| rs372170364 | 19:17,417,070 | A/G | — | uncertain significance |
| rs950948889 | 19:17,417,088 | G/T | — | uncertain significance |
| rs1210607397 | 19:17,417,095 | C/G | — | uncertain significance |
| rs200891604 | 19:17,417,111 | C/G | — | uncertain significance |
| rs2074148140 | 19:17,417,127 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.