MT-TI
MT-TI is a gene that in humans encodes the mitochondrial transfer RNA for isoleucine. This gene is located within the mitochondrial DNA, which is distinct from the nuclear DNA that contains the majority of the human genetic code.
Function
The MT-TI gene is responsible for the production of a type of transfer RNA that helps to build proteins within the mitochondria. Specifically, it assists in the incorporation of the amino acid isoleucine into these proteins. Isoleucine is a crucial component of many proteins and plays a key role in various metabolic processes.
Clinical significance
Mutations in the MT-TI gene have been associated with a number of mitochondrial diseases, including MELAS and MERRF. These conditions are characterized by a wide range of symptoms, from muscle weakness and neurological problems to hearing loss and heart disease.
See also
References
| Genes on Human chromosome 22 | ||||||
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Contributors: Prab R. Tumpati, MD
