MRPL3 Chromosome 3
Mitochondrial ribosomal protein L3
Upload your DNA to see your personal genotypes for variants in MRPL3.
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 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small nucleolar RNA protein coding host genes|Large subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
3q22.1
Ensembl
ENSG00000114686
Associated Conditions (2)
Neonatal encephalopathy
Combined oxidative phosphorylation defect type 9
Key Variants
RS145183319
Conflicting classifications of pathogenicity
Health Risk
RS537480020
Conflicting classifications of pathogenicity
Health Risk
RS1256488073
Likely pathogenic
Neonatal encephalopathy, Neonatal encephalopathy
Health Risk
RS387906962
Likely pathogenic
Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9
Health Risk
RS749424539
Likely pathogenic
Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9
Health Risk
RS1582724664
Pathogenic
Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9
Health Risk
RS780595770
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145183319 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS537480020 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1256488073 | Health Risk | Likely pathogenic | Neonatal encephalopathy, Neonatal encephalopathy |
| RS387906962 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9 |
| RS749424539 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9 |
| RS1582724664 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 9, Combined oxidative phosphorylation defect type 9 |
| RS780595770 | Health Risk | Pathogenic | — |