MRPL39 Chromosome 21
Mitochondrial ribosomal protein L39
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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 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Large subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
21q21.3
Ensembl
ENSG00000154719
Associated Conditions (3)
Leigh syndrome
Combined oxidative phosphorylation deficiency 59
Mitochondrial disease
Key Variants
RS746607851
Conflicting classifications of pathogenicity
Leigh syndrome, Combined oxidative phosphorylation deficiency 59, Mitochondrial disease
Health Risk
RS1227035820
Likely pathogenic
Mitochondrial disease, Combined oxidative phosphorylation deficiency 59, Mitochondrial disease
Health Risk
RS1209423257
Pathogenic
Leigh syndrome, Combined oxidative phosphorylation deficiency 59, Mitochondrial disease
Health Risk
RS375392547
Pathogenic/Likely pathogenic
Leigh syndrome, Combined oxidative phosphorylation deficiency 59, Leigh syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746607851 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Combined oxidative phosphorylation deficiency 59, Mitochondrial disease |
| RS1227035820 | Health Risk | Likely pathogenic | Mitochondrial disease, Combined oxidative phosphorylation deficiency 59, Mitochondrial disease |
| RS1209423257 | Health Risk | Pathogenic | Leigh syndrome, Combined oxidative phosphorylation deficiency 59, Mitochondrial disease |
| RS375392547 | Health Risk | Pathogenic/Likely pathogenic | Leigh syndrome, Combined oxidative phosphorylation deficiency 59, Leigh syndrome |