Mitochondrial ATP8 gene
The mitochondrial gene MT-ATP8 encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is subunit 8 of the respiratory complex IV. The gene is encoded by nucleotides 8366-8572. Diseases caused by mutations include cerebal pseudoatrophy, and cardiomyopathy. 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. |
Ware SM et al. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
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2. |
Galimberti CA et al. (2006) Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.
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3. |
Jonckheere AI et al. (2008) A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
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4. |
Yu X et al. (2009) The mtDNA nt7778 G/T polymorphism affects autoimmune diseases and reproductive performance in the mouse.
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5. |
Lam CW et al. (1997) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.
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6. |
NCBI article
NCBI 4509
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7. |
OMIM.ORG article
Omim 516070
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8. |
Orphanet article
Orphanet ID 159773
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9. |
Wikipedia article
Wikipedia EN (MT-ATP8)
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Update: Aug. 14, 2020