MRPS22 Chromosome 3
Mitochondrial ribosomal protein S22
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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 does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
3q23
Ensembl
ENSG00000175110
Associated Conditions (11)
Hypotonia with lactic acidemia and hyperammonemia
MRPS22-related disorder
Inborn genetic diseases
Gastric cancer
Ovarian dysgenesis 7
46 XX gonadal dysgenesis
Muscular dystrophy
adult-onset
with leukoencephalopathy
Ovarian serous cystadenocarcinoma
Premature ovarian failure
Key Variants
RS138148950
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS144902770
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS149674843
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374112977
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS377459479
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS544369132
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, Gastric cancer, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS753345594
Conflicting classifications of pathogenicity
Ovarian dysgenesis 7, 46 XX gonadal dysgenesis, Muscular dystrophy
Health Risk
RS76148008
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS772578397
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS772766573
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
RS774237195
Conflicting classifications of pathogenicity
Ovarian dysgenesis 7, Premature ovarian failure, Ovarian dysgenesis 7
Health Risk
RS777163637
Conflicting classifications of pathogenicity
Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
Health Risk
All Variants (29)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138148950 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder, Hypotonia with lactic acidemia and hyperammonemia |
| RS144902770 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS149674843 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374112977 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS377459479 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS544369132 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, Gastric cancer, Hypotonia with lactic acidemia and hyperammonemia |
| RS753345594 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 7, 46 XX gonadal dysgenesis, Muscular dystrophy |
| RS76148008 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder, Hypotonia with lactic acidemia and hyperammonemia |
| RS772578397 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS772766573 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS774237195 | Health Risk | Conflicting classifications of pathogenicity | Ovarian dysgenesis 7, Premature ovarian failure, Ovarian dysgenesis 7 |
| RS777163637 | Health Risk | Conflicting classifications of pathogenicity | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS147932653 | Health Risk | Likely pathogenic | Hypotonia with lactic acidemia and hyperammonemia, MRPS22-related disorder, Hypotonia with lactic acidemia and hyperammonemia |
| RS2472854593 | Health Risk | Likely pathogenic | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS2472859554 | Health Risk | Likely pathogenic | — |
| RS771036052 | Health Risk | Likely pathogenic | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS1322144248 | Health Risk | Pathogenic | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS1486883902 | Health Risk | Pathogenic | — |
| RS201337850 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS387906924 | Health Risk | Pathogenic | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS746881295 | Health Risk | Pathogenic | — |
| RS754764412 | Health Risk | Pathogenic | — |
| RS766913051 | Health Risk | Pathogenic | — |
| RS775354826 | Health Risk | Pathogenic | Hypotonia with lactic acidemia and hyperammonemia, 46 XX gonadal dysgenesis, Hypotonia with lactic acidemia and hyperammonemia |
| RS775852045 | Health Risk | Pathogenic | Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia |
| RS780703525 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS863224077 | Health Risk | Pathogenic | — |
| RS868695898 | Health Risk | Pathogenic | — |
| RS119478059 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia with lactic acidemia and hyperammonemia, Ovarian dysgenesis 7, Hypotonia with lactic acidemia and hyperammonemia |