MRPS28 Chromosome 8
Mitochondrial ribosomal protein S28
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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 has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
8q21.13
Ensembl
ENSG00000147586
Associated Conditions (1)
Combined oxidative phosphorylation deficiency 47
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1808705345 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 47, Combined oxidative phosphorylation deficiency 47 |