MRPS34 Chromosome 16
Mitochondrial ribosomal protein S34
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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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000074071
Associated Conditions (5)
Inborn genetic diseases
MRPS34-related disorder
Leigh syndrome
Combined oxidative phosphorylation deficiency 32
Ovarian serous cystadenocarcinoma
Key Variants
RS139953295
Conflicting classifications of pathogenicity
Inborn genetic diseases, MRPS34-related disorder, Inborn genetic diseases
Health Risk
RS1131692037
Likely pathogenic
Leigh syndrome, Combined oxidative phosphorylation deficiency 32, Leigh syndrome
Health Risk
RS1228889026
Likely pathogenic
Health Risk
RS1313473522
Likely pathogenic
Combined oxidative phosphorylation deficiency 32, Combined oxidative phosphorylation deficiency 32
Health Risk
RS750773640
Likely pathogenic
Combined oxidative phosphorylation deficiency 32, Combined oxidative phosphorylation deficiency 32
Health Risk
RS1018543927
Pathogenic
Health Risk
RS1161932777
Pathogenic
Leigh syndrome, Combined oxidative phosphorylation deficiency 32, Leigh syndrome
Health Risk
RS563189672
Pathogenic
Combined oxidative phosphorylation deficiency 32, Ovarian serous cystadenocarcinoma, Combined oxidative phosphorylation deficiency 32
Health Risk
RS1212793496
Pathogenic/Likely pathogenic
MRPS34-related disorder, Inborn genetic diseases, MRPS34-related disorder
Health Risk
RS763672163
Pathogenic/Likely pathogenic
Combined oxidative phosphorylation deficiency 32, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 32
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139953295 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MRPS34-related disorder, Inborn genetic diseases |
| RS1131692037 | Health Risk | Likely pathogenic | Leigh syndrome, Combined oxidative phosphorylation deficiency 32, Leigh syndrome |
| RS1228889026 | Health Risk | Likely pathogenic | — |
| RS1313473522 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 32, Combined oxidative phosphorylation deficiency 32 |
| RS750773640 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 32, Combined oxidative phosphorylation deficiency 32 |
| RS1018543927 | Health Risk | Pathogenic | — |
| RS1161932777 | Health Risk | Pathogenic | Leigh syndrome, Combined oxidative phosphorylation deficiency 32, Leigh syndrome |
| RS563189672 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 32, Ovarian serous cystadenocarcinoma, Combined oxidative phosphorylation deficiency 32 |
| RS1212793496 | Health Risk | Pathogenic/Likely pathogenic | MRPS34-related disorder, Inborn genetic diseases, MRPS34-related disorder |
| RS763672163 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 32, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 32 |