Ndufa9 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.
Ndufa9 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" | NDUFA9 - NADH:Ubiquinone Oxidoreductase Subunit A9
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! Chromosomal Location
| 12p13.32 |
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! NCBI Gene ID
! OMIM
! Ensembl ID
! UniProt
! Associated Diseases
| Mitochondrial Complex I Deficiency, leukoencephalopathy |
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NDUFA9 is a subunit of the NADH dehydrogenase (Complex I) located in the matrix-facing side of the peripheral arm. It contains an oxidoreductase-like NADH-binding domain and participates in the initial electron transfer step from NADH to FMN.
Mitochondrial Complex I Deficiency, leukoencephalopathy
Broad tissue distribution with high expression in brain (cerebral cortex, basal ganglia, hippocampus), heart, and skeletal muscle.
Ndufa9 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 Ndufa9 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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[2]: Fiedorczuk K, et al. Atomic structure of the entire mammalian mitochondrial complex I. Nature. 2016;538(7625):299-302. PMID:27505352
[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