MRPL35
mitochondrial ribosomal protein L35
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 three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777800614 | 2:86,426,620 | G/A | — | uncertain significance |
| rs2059352 | 2:86,427,821 | G/C | — | — |
| rs778165948 | 2:86,433,318 | C/T | — | uncertain significance |
| rs761730542 | 2:86,433,391 | G/A | — | uncertain significance |
| rs745777368 | 2:86,434,386 | A/G | — | uncertain significance |
| rs774402778 | 2:86,434,391 | G/A | — | uncertain significance |
| rs192438590 | 2:86,437,433 | G/C | downstream gene variant | — |
| rs751296332 | 2:86,437,621 | T/A | — | uncertain significance |
| rs371788547 | 2:86,437,624 | T/C | — | uncertain significance |
| rs750225040 | 2:86,437,652 | G/A | — | uncertain significance |
| rs200309098 | 2:86,437,730 | G/A | — | uncertain significance |
| rs1052060 | 2:86,437,740 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.