Search
mt-tRNA leucine-1 (MT-TL1)
Pathology:
- defects in MT-TL1 are associated with
- Leigh syndrome
- maternally inherited diabetes & deafness
- MELAS syndrome
- myoclonic epilepsy with ragged-red fibers
- progressive external ophthalmoplegia
Laboratory:
- MT-TL1 gene mutation
General
tRNA leucine-1 (TRNAL1)
Properties
COMPARTMENT: cytoplasm
MOTIF: anticodon loop
AMINO-ACYL: leucine residue
Database Correlations
OMIM 590050
References
- OMIM :accession 590050
- Genetics Home Reference
MT-TL1: mitochondrially encoded tRNA leucine 1 (UUA/G)
https://ghr.nlm.nih.gov/gene/MT-TL1
- Wikipedia: MT-TL1
https://en.wikipedia.org/wiki/MT-TL1