Mitochondrial TRNY gene
The mitochondrial gene MT-TY encodes a transport RNA (tRNA) for tyrosine (Y). The gene is encoded by nucleotides 5826-5891. Diseases caused by mutations include exercise intolerance, ophthalmoplegia, myopathy, cardiomyopathy, and FSGS. Somatic mutations are observed with mitochondrial complex III deficiency. 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. |
Pulkes T et al. (2000) A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.
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2. |
Sahashi K et al. (2001) Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.
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3. |
Raffelsberger T et al. (2001) CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.
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4. |
Scaglia F et al. (2003) Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.
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5. |
NCBI article
NCBI 4579
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6. |
OMIM.ORG article
Omim 590100
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Update: Aug. 14, 2020