Genomes and Genes
Gene Symbol: NDUFAF1
Description: NADH:ubiquinone oxidoreductase complex assembly factor 1
Alias: CGI-65, CGI65, CIA30, complex I intermediate-associated protein 30, mitochondrial, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1, NADH dehydrogenase (ubiquinone) complex I, assembly factor 1, NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1
- Vogel R, van den Brand M, Rodenburg R, van den Heuvel L, Tsuneoka M, Smeitink J, et al. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. Mol Genet Metab. 2007;91:176-82 pubmed..Recently, CI assembly chaperones NDUFAF1 and B17.2L were linked to CI deficiency, but it is still unclear by which mechanism...
- McKenzie M, Ryan M. Assembly factors of human mitochondrial complex I and their defects in disease. IUBMB Life. 2010;62:497-502 pubmed publisher..Defects in assembly factors which disrupt complex I assembly and contribute to human disease pathogenesis will also be discussed. ..
- Fassone E, Taanman J, Hargreaves I, Sebire N, Cleary M, Burch M, et al. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J Med Genet. 2011;48:691-7 pubmed publisher..The authors' objective is to report two heterozygous missense mutations in the NDUFAF1 gene as a cause of fatal infantile HCM in a patient with isolated complex I deficiency...
- Vogel R, Janssen R, Ugalde C, Grovenstein M, Huijbens R, Visch H, et al. Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J. 2005;272:5317-26 pubmed..A good candidate is NDUFAF1, the human homologue of Neurospora crassa complex I chaperone CIA30...
- Dunning C, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, et al. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. EMBO J. 2007;26:3227-37 pubmed..Genetic analysis revealed the patient had mutations in both alleles of the NDUFAF1 gene that encodes CIA30...
- Nouws J, Nijtmans L, Houten S, van den Brand M, Huynen M, Venselaar H, et al. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab. 2010;12:283-94 pubmed publisher..ACAD9 binds complex I assembly factors NDUFAF1 and Ecsit and is specifically required for the assembly of complex I...
- Janssen R, Smeitink J, Smeets R, Van Den Heuvel L. CIA30 complex I assembly factor: a candidate for human complex I deficiency?. Hum Genet. 2002;110:264-70 pubmed..We have characterized the human homologue of one of these two complex I intermediate associated proteins, named CIA30, and show that expression of the human CIA30 protein is ubiquitous with a slightly higher expression in various ..
- Wu L, Peng J, Ma Y, He F, Deng X, Wang G, et al. Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene. Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27:1034-7 pubmed publisher..278A > G; c.247G > A) within exon 2 in the NDUFAF1 gene, his parents carried a heterozygous mutation each...
- Küffner R, Rohr A, Schmiede A, Krull C, Schulte U. Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). J Mol Biol. 1998;283:409-17 pubmed..These results indicate that the two proteins are novel chaperones specific for complex I membrane arm assembly. ..