MRPS25 Chromosome 3

Mitochondrial ribosomal protein S25
1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in MRPS25.

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. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"Mitochondrial ribosomal proteins|Small subunit mitochondrial ribosomal proteins"
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000131368
Associated Conditions (1)
Combined oxidative phosphorylation deficiency 50
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1192432123 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 50, Combined oxidative phosphorylation deficiency 50
Sign Up to Analyze Your DNA Log In