MRPS7 Chromosome 17
Mitochondrial ribosomal protein S7
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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. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mitochondrial ribosomal proteins
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000125445
Associated Conditions (4)
Combined oxidative phosphorylation deficiency 34
See cases
Premature ovarian insufficiency
Sensorineural hearing loss disorder
Key Variants
RS115047866
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 34, See cases, Combined oxidative phosphorylation deficiency 34
Health Risk
RS752619610
Conflicting classifications of pathogenicity
Premature ovarian insufficiency, Sensorineural hearing loss disorder, Premature ovarian insufficiency
Health Risk
RS2545055011
Likely pathogenic
Premature ovarian insufficiency, Sensorineural hearing loss disorder, Premature ovarian insufficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115047866 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 34, See cases, Combined oxidative phosphorylation deficiency 34 |
| RS752619610 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian insufficiency, Sensorineural hearing loss disorder, Premature ovarian insufficiency |
| RS2545055011 | Health Risk | Likely pathogenic | Premature ovarian insufficiency, Sensorineural hearing loss disorder, Premature ovarian insufficiency |