Ndufa6 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Ndufa6 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
.infobox-gene
!! colspan="2" style="background:#f8f9fa; text-align:center; font-weight:bold" | NDUFA6 - NADH:Ubiquinone Oxidoreductase Subunit A6
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! Chromosomal Location
| 12q13.12 |
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! NCBI Gene ID
! OMIM
! Ensembl ID
! UniProt
! Associated Diseases
| Mitochondrial Complex I Deficiency, cardiomyopathy |
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NDUFA6 (also known as NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6) is a peripheral arm subunit of Complex I. Originally identified as a NADH-binding protein, NDUFA6 undergoes post-translational myristoylation which targets it to the inner mitochondrial membrane.
Mitochondrial Complex I Deficiency, cardiomyopathy
Expressed in all tissues with highest levels in heart, brain, kidney, and liver. In brain, detected in cerebral cortex, hippocampus, and cerebellum.
Ndufa6 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Ndufa6 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
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[3]: Galkin A, et al. Identification of the mitochondrial NDUFAF2 as the complex I assembly factor. Cell. 2008;133(1):125-135. PMID:18342227
[4]: Lazarou M, et al. Novel mitochondrial complex I assembly factors. Methods Enzymol. 2009;457:85-105. PMID:19490921
[5]: Koopman WJ, et al. Mitochondrial complex I deficiency and neurological disease. J Clin Invest. 2015;125(3):919-931. PMID:25664952
[6]: Guerrero-Castillo S, et al. The assembly pathway of mitochondrial respiratory chain complex I. Nat Cell Biol. 2017;19(3):254-261. PMID:28218918
[7]: Antonicka H, et al. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and cause complex IV deficiency. Am J Hum Genet. 2003;73(1):174-187. PMID:12707853
[8]: Janssen RJ, et al. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain. 2009;132(Pt 4):833-842. PMID:19293253