MT-TL1
Encyclopedia
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
.
(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
.
One common mutation is A3243G. This mutation has been theorized to be associated with several other mitochondrial disease
, including diabetes mellitus and deafness
.
Transfer RNA
Transfer RNA is an adaptor molecule composed of RNA, typically 73 to 93 nucleotides in length, that is used in biology to bridge the three-letter genetic code in messenger RNA with the twenty-letter code of amino acids in proteins. The role of tRNA as an adaptor is best understood by...
which in humans is encoded by the mitochondrial
Mitochondrion
In cell biology, a mitochondrion is a membrane-enclosed organelle found in most eukaryotic cells. These organelles range from 0.5 to 1.0 micrometers in diameter...
MT-TL1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
MT-TL1 is a small 75 nucleotide RNARNA
Ribonucleic acid , or RNA, is one of the three major macromolecules that are essential for all known forms of life....
(human mitochondrial map position 3230-3304) that transfers the amino acid leucine
Leucine
Leucine is a branched-chain α-amino acid with the chemical formula HO2CCHCH2CH2. Leucine is classified as a hydrophobic amino acid due to its aliphatic isobutyl side chain. It is encoded by six codons and is a major component of the subunits in ferritin, astacin and other 'buffer' proteins...
to a growing polypeptide chain at the ribosome site of protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
synthesis during translation
Translation (genetics)
In molecular biology and genetics, translation is the third stage of protein biosynthesis . In translation, messenger RNA produced by transcription is decoded by the ribosome to produce a specific amino acid chain, or polypeptide, that will later fold into an active protein...
.
Clinical significance
It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).One common mutation is A3243G. This mutation has been theorized to be associated with several other mitochondrial disease
Mitochondrial disease
Mitochondrial diseases are a group of disorders caused by dysfunctional mitochondria, the organelles that are the "powerhouses" of the cell. Mitochondria are found in every cell of the human body except red blood cells...
, including diabetes mellitus and deafness
Diabetes mellitus and deafness
Diabetes mellitus and deafness or maternally inherited diabetes and deafness is a mitochondrial disease associated with the gene "Leu-UUR".-Alternative names:*diabetes and deafness, maternally inherited; MIDD*Ballinger-Wallace syndrome...
.