.infobox-gene
!! colspan="2" style="background:#f8f9fa; text-align:center; font-weight:bold" | NDUFA12 - NADH:Ubiquinone Oxidoreductase Subunit A12
|-
! Chromosomal Location
| 12q14.2 |
|---|
! NCBI Gene ID
! OMIM
! Ensembl ID
! UniProt
! Associated Diseases
| Mitochondrial Complex I Deficiency, Leigh Syndrome |
|---|
Ndufa12 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.
NDUFA12 is a nuclear-encoded mitochondrial gene involved in oxidative phosphorylation and mitochondrial function. This gene has been studied in the context of neurodegenerative diseases.
NDUFA12 (also known as B17.2) is an accessory subunit of NADH dehydrogenase (Complex I). It is one of the few subunits that has been implicated in causing human disease when mutated.
Mitochondrial Complex I Deficiency, Leigh Syndrome
Expressed in most tissues with high levels in heart, brain, skeletal muscle, and kidney. Brain expression is prominent in cerebral cortex and cerebellar Purkinje cells.
The study of Ndufa12 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