MT-TH [SEP] found in taxon
MT-TH
Mitochondrially encoded tRNA histidine, also known as MT-TH, is a transfer RNA which, in humans, is encoded by the mitochondrial "MT-TH" gene.
Structure.
The "MT-TH" gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 69 base pairs. The structure of a tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.
Function.
MT-TH is
mutation of 12192GA in the "MT-TH" gene has been found in multiple patients with the disorder. patients exhibited symptoms of cardiomyopathy in different forms.
Clinical significance Deafness, Nonsyndromic Sensorineural, Mitochondrial.
Deafness has also been associated with mutations in the "MT-TH" gene. Heteroplasmic 12201TC transitions in "MT-TH" have been found in a family exhibiting symptoms of nonsyndromic sensorineural deafness, varying in time of onset and severity.