Gene: NDUFS1

Alternate names for this Gene: CI-75Kd|CI-75k|MC1DN5|PRO1304

Gene Summary: The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.3

Description of this Gene: NADH:ubiquinone oxidoreductase core subunit S1

Type of Gene: protein-coding

rs13393316 in NDUFS1 gene and Frontotemporal dementia PMID 29724592 2018 Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

rs370411488 in NDUFS1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 PMID 19167255 2009 Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

PMID 20382551 2010 Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.

PMID 21458341 2011 Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.