glycyl-tRNA synthetase 1
Senast uppdaterad 10 mars 2025
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
The GARS1 gene provides instructions for making an enzyme called glycine—tRNA ligase. This enzyme is found in all cell types and plays an important role in the production of proteins. During protein production, protein building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Glycine—tRNA ligase helps add the amino acid glycine at the proper place in a protein's chain of amino acids.
Normal function
The GARS1 gene provides instructions for making an enzyme called glycine—tRNA ligase. This enzyme is found in all cell types and plays an important role in the production of proteins. During protein production, protein building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Glycine—tRNA ligase helps add the amino acid glycine at the proper place in a protein's chain of amino acids.
Conditions referring to this gene or chromosome
Other names
CMT2D
DSMAV
GARS
glycine tRNA ligase
GlyRS
SMAD1
SYG_HUMAN
Related patient information and medicines
Patient information leaflet
Resa till avlägsna platser
It is so that if you seek medical help from doctors and nurses in the country where you are travelling, they can advise you wha... Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness Medicine: Drs Jim Duff and Peter Gormly (2010). This is an.
Patient information leaflet
Typ 2-diabetesbehandling
. If a high blood sugar level is brought down to a normal level, your symptoms will ease and your risk of long-term complications will be much lower. Managing type 2 diabetes Keeping your blood sugar (glucose) well controlled is key to reducing your risk of long-term complications such as heart, kidney or eye problems. Regardless of whether you.
Patient information leaflet
Postherpetisk neuralgi
What is postherpetic neuralgia. Postherpetic neuralgia (PHN) is a nerve pain (neuralgia) that persists after the shingles rash has cleared. If the pain from shingles goes but then returns at a later date, this too is called PHN. Shingles is caused by the chickenpox (varicella-zoster) virus. After a chickenpox infection, the virus lies dormant in.
Patient information leaflet
Wilsons sjukdom
Wilsons sjukdom is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. What is Wilson's disease. Wilson's disease is a condition.
Patient information leaflet
Find out if you are eligible for a free NHS flu vaccination
Open the flu jab Is the flu vaccine free for you this winter. The flu vaccine is free on the NHS for people most likely to get seriously ill from flu, and for those who could easily pass it on to someone at risk. Whether you qualify depends on your age, your health, and a few other things such as being pregnant or caring for someone. The groups.
Patient information leaflet
Körning och diabetes
Insulin, used for people with type 1 diabetes and some people with type 2, can cause your blood sugar to drop too low - so-called hypoglycaemia episodes, or hypos. So too can some tablets used to treat type 2 diabetes - mostly tablets called sulfonylureas, but also glinides. But hypos can also affect your... So the DVLA has set out guidelines for.
Vidare läsning och referenser
- glycyl-tRNA synthetase 1; MedlinePlus, National Library of Medicine.
- Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10.
- Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci. 2006 Oct 11;26(41):10397-406. doi: 10.1523/JNEUROSCI.1671-06.2006.
- Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Zuchner S, Hou YM, Antonellis A. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681.
- James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology. 2006 Nov 14;67(9):1710-2. doi: 10.1212/01.wnl.0000242619.52335.bc.
- Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P. Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11239-44. doi: 10.1073/pnas.0705055104. Epub 2007 Jun 26.
- Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13.
- Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gomez-Martin A, Zhang Q, Burgess RW, Cader MZ, Talbot K, Yang XL, Bennett DL, Schiavo G. Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3324-E3333. doi: 10.1073/pnas.1614557114. Epub 2017 Mar 28.
- Xie W, Nangle LA, Zhang W, Schimmel P, Yang XL. Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):9976-81. doi: 10.1073/pnas.0703908104. Epub 2007 Jun 1.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
10 mars 2025 | Senaste versionen
1 Mar 2025 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.