MRPS16 Chromosome 10

Mitochondrial ribosomal protein S16
6 variants 6 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 that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
10q22.2
Ensembl
ENSG00000182180
Associated Conditions (1)
Combined oxidative phosphorylation defect type 2
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS141953041 Health Risk Conflicting classifications of pathogenicity
RS202242186 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 2, Combined oxidative phosphorylation defect type 2
RS370721283 Health Risk Conflicting classifications of pathogenicity
RS537369433 Health Risk Conflicting classifications of pathogenicity
RS767062387 Health Risk Conflicting classifications of pathogenicity
RS863224075 Health Risk Pathogenic
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