MRPS23 Chromosome 17

Mitochondrial ribosomal protein S23
1 variant 1 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 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000181610
Associated Conditions (2)
Combined oxidative phosphorylation deficiency 46
Inborn genetic diseases
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS772721937 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 46, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 46
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