MRPL4
mitochondrial ribosomal protein L4
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. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs571132541 | 19:10,362,467 | G/A | — | — |
| rs143729133 | 19:10,363,134 | G/A | — | uncertain significance |
| rs45520838 | 19:10,363,280 | C/T | missense variant | — |
| rs11668618 | 19:10,365,896 | C/T | downstream gene variant | — |
| rs373664758 | 19:10,367,457 | G/C | — | uncertain significance |
| rs76414904 | 19:10,368,206 | A/G | downstream gene variant | — |
| rs376717443 | 19:10,368,961 | G/A | — | uncertain significance |
| rs150980348 | 19:10,369,128 | G/A | — | uncertain significance |
| rs765019295 | 19:10,370,280 | A/C | — | benign |
| rs375741179 | 19:10,370,285 | G/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.