MT-TL1
From Infogalactic: the planetary knowledge core
mitochondrially encoded tRNA leucine 1 (UUA/G) | |
---|---|
Identifiers | |
Symbol | MT-TL1 |
Alt. symbols | MTTL1 |
Entrez | 4567 |
HUGO | 7490 |
OMIM | 590050 |
RefSeq | NC_001807 |
Other data | |
Locus | Chr. MT [1] |
Mitochondrially encoded tRNA leucine 1 (UUA/G) also known as MT-TL1 is a transfer RNA which in humans is encoded by the mitochondrial MT-TL1 gene.[1]
Function
MT-TL1 is a small 75 nucleotide RNA (human mitochondrial map position 3230-3304) that transfers the amino acid leucine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).[2]
One common mutation is A3243G. This mutation has been theorized to be associated with several other mitochondrial diseases,[3] including diabetes mellitus and deafness.[4][5]
See also
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP
- GeneReviews/NCBI/NIH/UW entry on MELAS
<templatestyles src="Asbox/styles.css"></templatestyles>