MRPL12 Chromosome 17

Mitochondrial ribosomal protein L12
2 variants 2 Health Risk

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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
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