MT-TL2
| mitochondrially encoded tRNA leucine 2 (CUN) | |
|---|---|
| Identifiers | |
| Symbol | MT-TL2 |
| Alt. symbols | MTTL2 |
Chr. MT [1] | |
Mitochondrially encoded tRNA leucine 2 (CUN) also known as MT-TL2 is a transfer RNA which in humans is encoded by the mitochondrial MT-TL2 gene.[1]
Function
MT-TL2 is a small 71 nucleotide
translation
.
Structure
The MT-TL2 gene is located on the
tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.[3]
Clinical significance
Mutations in MT-TL2 can result in multiple mitochondrial deficiencies and associated disorders, including
encephalomyopathy. A patient with a mutation G12315A was found with encephalomyopathy with ragged-red muscle fibers.[4] A patient with a mutation of A12320G exhibited mitochondrial myopathy, and showed signs of mitochondrial myopathy.[5] In addition, multiple individuals with a T12297C substitution showed signs of cardiomyopathy accompanied with varying degrees.[6]
MT-TL2 mutations have also been associated with complex IV deficiency of the
encephalomyopathy, lactic acidosis, and hypertrophic cardiomyopathy.[7] A patient with a 12316G>A mutation in MT-TL2 was found with the deficiency.[8]
References
- S2CID 4355527.
- ^ "MT-TL2 mitochondrially encoded tRNA leucine 2 (CUN) [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
- ^ "tRNA / transfer RNA". Learn Science at Scitable.
- PMID 8923013.
- PMID 9012410.
- PMID 11313776.
- ^ "Cytochrome c oxidase deficiency". Genetics Home Reference.
This article incorporates text from this source, which is in the public domain.
- S2CID 10403077.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.