Mitochondrial TRNP gene
The mitochondrial gene MT-TP encodes a transport RNA (tRNA) for proline (P). The gene is encoded by nucleotides 15955-16023. Diseases caused by mutations include MERFF syndrome, Parkinson disease, and myopathy. 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. |
Grasbon-Frodl EM et al. (1999) Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease.
|
2. |
Blakely EL et al. (2009) A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.
|
3. |
Moraes CT et al. (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease.
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4. |
Orphanet article
Orphanet ID 205934
|
5. |
NCBI article
NCBI 4571
|
6. |
OMIM.ORG article
Omim 590075
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Update: Aug. 14, 2020