.infobox-gene
!! colspan="2" style="background:#f8f9fa; text-align:center; font-weight:bold" | NDUFA13 - NADH:Ubiquinone Oxidoreductase Subunit A13
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! Chromosomal Location
| 19p13.3 |
|---|
! NCBI Gene ID
! OMIM
! Ensembl ID
! UniProt
! Associated Diseases
| Mitochondrial Complex I Deficiency, neurodegeneration |
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Ndufa13 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.
NDUFA13 is a nuclear-encoded mitochondrial gene involved in oxidative phosphorylation and mitochondrial function. This gene has been studied in the context of neurodegenerative diseases.
NDUFA13 (also known as GRIM-19) is a unique subunit of Complex I that also functions as a pro-apoptotic gene. Originally identified as a gene induced by interferon-beta and retinoic acid, NDUFA13 plays a dual role: essential for Complex I assembly and regulates cell death pathways.
Mitochondrial Complex I Deficiency, neurodegeneration
Expressed in most tissues with high expression in brain, heart, skeletal muscle, and immune tissues.
The study of Ndufa13 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.
[1]: Sazanov LA. A giant molecular proton pump: structure and mechanism of respiratory complex I. Nat Rev Mol Cell Biol. 2015;16(6):375-388. PMID:25991374
[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