MRPL12 Chromosome 17
Mitochondrial ribosomal protein L12
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What This Gene Does
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 which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000262814
Associated Conditions (1)
Combined oxidative phosphorylation deficiency 45
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767180827 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS577290119 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 45, Combined oxidative phosphorylation deficiency 45 |