LP182316-2
MT-ND6 gene.m.14459G>A
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Description
The MT-ND6 (mitochondrially encoded NADH dehydrogenase 6) gene mutation that can cause Leigh syndrome, written as G14459A or Ala72Val, replaces the amino acid alanine with the amino acid valine at protein position 72. This genetic change also has been found in people with Leber hereditary optic neuropathy and a movement disorder called dystonia, which involves involuntary muscle contractions, tremors, and other uncontrolled movements. This mutation appears to disrupt the normal assembly or activity of complex I in mitochondria. It is not known, however, how this MT-ND6 gene alteration is related to the specific features of Leigh syndrome, Leber hereditary optic neuropathy, or dystonia. It also remains unclear why a single mutation can cause such varied signs and symptoms in different people. Source: Genetic Home Reference, National Library of Medicine, MT-ND6 G14459A
Basic Part Properties
- Part Display Name
- MT-ND6 gene m.14459G>A
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-01-09
- Construct for LOINC Short Name
- MT-ND6 m.14459G>A
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP182316-2
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MT-ND6 基因.m.14459G>A |
| fr-CA | French (Canada) | Gène MT-ND6.m.14459G>A |
| es-ES | Spanish (Spain) | Gen de la proteína mitocondrial NADH deshidrogenasa subunidad 6. Mutación m.14459G>A |
| it-IT | Italian (Italy) | MT-ND6, gene.m.14459G>A Synonyms: Gene MT-ND6 m.14459G>A |
| tr-TR | Turkish (Turkey) | MT-ND6 geni.m.14459G>A |
| ru-RU | Russian (Russian Federation) | MT-ND6 ген.m.14459G>A |
| nl-NL | Dutch (Netherlands) | MT-ND6-gen.m.14459G>A Synonyms: MT-ND6 gen.m.14459G>A |
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