| Tdark | 28S ribosomal protein S6, mitochondrial |
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 that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]
Comments
| Disease | Z-score | Confidence |
|---|---|---|
| Coronary artery disease 240 | ||
| Down syndrome 548 | ||
| Muscle Weakness 92 |
| PMID | Text |
|---|---|
| 20971364 | Observational study of gene-disease association. (HuGE Navigator) |
| 20877624 | Observational study of gene-disease association. (HuGE Navigator) |
| 20738937 | Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 19240061 | Observational study of gene-disease association. (HuGE Navigator) |
| 19198609 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) |
| PMID | Year | Title |
|---|---|---|
| 25944712 | 2015 | N-terminome analysis of the human mitochondrial proteome. |
| 25416956 | 2014 | A proteome-scale map of the human interactome network. |
| 22458338 | 2012 | Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses. |
| 21378990 | 2011 | Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. |
| 21269460 | 2011 | Initial characterization of the human central proteome. |
| 20971364 | 2010 | A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. |
| 20738937 | 2010 | Additive effect of multiple genetic variants on the risk of coronary artery disease. |
| 19240061 | 2009 | Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. |
| 19198609 | 2009 | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. |
| More... |
