| mitochondrially encoded tRNA glycine | |
|---|---|
| Identifiers | |
| Symbol | MT-TG |
| Alt. symbols | MTTG |
| NCBI gene | 4563 |
| HGNC | 7486 |
| RefSeq | NC_001807 |
| Other data | |
| Locus | Chr. MT[1] |
Mitochondrially encoded tRNA glycine also known asMT-TG is atransfer RNA which in humans is encoded by themitochondrialMT-TGgene.[1]
TheMT-TG gene is located on thep arm of themitochondrial DNA at position 12 and it spans 68 base pairs.[2] The structure of atRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafedclover.[3]
MT-TG is a small 68 nucleotidetransfer RNA (human mitochondrial map position 9991-10058) that transfers the amino acidglycine to a growingpolypeptide chain at theribosome site ofprotein synthesis duringtranslation.
Mutations intransfer RNAs have been found to lead to marked mitochondrial energy deficiency and a hindrance of mitochondrial proliferation, and defects inoxidative phosphorylation. Such defects may result inmyoclonic epilepsy with ragged-red fibers (MERRF). Myoclonic epilepsy with ragged-red fibers (MERRF) is a raremitochondrial disorder that affects many parts of the body, particularly themuscles andnervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. Common clinical manifestations includemyoclonus,myopathy,spasticity,epilepsy,peripheral neuropathy,dementia,ataxia,atrophy and more.[4][5]
Mutations in theMT-TG gene has also been associated with familialhypertrophic cardiomyopathy. Familialhypertrophic cardiomyopathy is a heart condition characterized by thickening of the heart, usually in theinterventricular septum. Common phenotypes includechest pain, shortness of breath,physical exertion,palpitations,lightheadedness,dizziness andfainting.[6] A family with a transition mutation of 9997T>C in theMT-TG gene exhibited familial hypertrophic cardiomyopathy.[7]
This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.