Gene: NDUFV1

Alternate names for this Gene: CI-51K|CI51KD|MC1DN4|UQOR1

Gene Summary: The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: NADH:ubiquinone oxidoreductase core subunit V1

Type of Gene: protein-coding

rs121913659 in NDUFV1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 26345448 2015 Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.

PMID 10080174 1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

PMID 23562761 2013 A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.

PMID 19073330 2008 Siblings with leukoencephalopathy.

rs121913659 in NDUFV1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 PMID 11349233 2001 Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

PMID 10080174 1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.