Mitochondrial TRNC gene
The mitochondrial gene MT-TC encodes a transport RNA (tRNA) for cysteine (C). The gene is encoded by nucleotides 5761-5826. Diseases caused by mutations include MELAS syndrome, and dystonia. The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
McFarland R et al. (2007) Homoplasmy, heteroplasmy, and mitochondrial dystonia.
|
2. |
Manfredi G et al. (1996) Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
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3. |
Santorelli FM et al. (1997) Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
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4. |
NCBI article
NCBI 4511
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5. |
OMIM.ORG article
Omim 590020
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Update: Aug. 14, 2020