Biology:AARS2
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Alanyl—tRNA synthetase, mitochondrial, also known as alanine—tRNA ligase (AlaRS) or alanyl—tRNA synthetase 2 (AARS2), is an enzyme that in humans is encoded by the AARS2 gene.[1][2]
Clinical relevance
Mutations in the AARS2 gene result in infantile mitochondrial cardiomyopathies.[3] Progressive leukoencephalopathy with Ovarian Failure (LKENP).
References
- ↑ "Entrez Gene: alanyl-tRNA synthetase 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57505.
- ↑ "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS". Biochemistry 44 (12): 4805–16. March 2005. doi:10.1021/bi047527z. PMID 15779907.
- ↑ "Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy". American Journal of Human Genetics 88 (5): 635–42. May 2011. doi:10.1016/j.ajhg.2011.04.006. PMID 21549344.
Further reading
- "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Research 12 (11): 1773–84. November 2002. doi:10.1101/gr.406902. PMID 12421765.
- "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research 6 (5): 337–45. October 1999. doi:10.1093/dnares/6.5.337. PMID 10574462.
- "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE 5 (9): e12862. 2010. doi:10.1371/journal.pone.0012862. PMID 20877624. Bibcode: 2010PLoSO...512862H.
- "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS". Biochemistry 44 (12): 4805–16. March 2005. doi:10.1021/bi047527z. PMID 15779907.
- "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America 97 (7): 3491–6. March 2000. doi:10.1073/pnas.97.7.3491. PMID 10737800. Bibcode: 2000PNAS...97.3491D.
External links
- AARS2 human gene location in the UCSC Genome Browser.
- AARS2 human gene details in the UCSC Genome Browser.
- CureARS non profit organisation supporting families affected by ARS mutations, including AARS2.
 |  |
