Gene: NDUFS4

Alternate names for this Gene: AQDQ|CI-18|CI-18 kDa|CI-AQDQ|MC1DN1

Gene Summary: This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q11.2

Description of this Gene: NADH:ubiquinone oxidoreductase subunit S4

Type of Gene: protein-coding

rs376281345 in NDUFS4 gene and Leigh Disease PMID 12616398 2003 Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

PMID 19107570 2008 A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 24020637 2014 Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.

PMID 19364667 2009 NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

rs2637030 in NDUFS4 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs4147743 in NDUFS4 gene and Respiratory Function Tests PMID 22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.