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NDUFV1

Function

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (PubMed:28844695). Contains FMN, which is the initial electron acceptor as well as one iron-sulfur cluster (PubMed:28844695).

Involvement in disease

Mitochondrial complex I deficiency, nuclear type 4

MC1DN4

A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the complex I 51 kDa subunit family.

Cellular localization

  • Mitochondrion inner membrane
  • Peripheral membrane protein
  • Matrix side

Alternative names

  • UQOR1
  • NDUFV1
  • UQOR1
  • NDUFV1
  • Complex I-51kD
  • NADH dehydrogenase flavoprotein 1
  • NADH-ubiquinone oxidoreductase 51 kDa subunit
  • CI-51kD

Target type

Proteins

Primary research area

Metabolism

Molecular weight

50817Da

We found 6 products in 3 categories

Primary Antibodies

Target

Application

Reactive species

Assay Kits

Target

Reactive species

Detection method

Cell Lines & Lysates

Target

Cell type

Species or organism

Search our catalogue for 'NDUFV1' (6)

Products

ab321893

Anti-NDUFV1 antibody [EPR29179-78]

Recombinant
RabMAb
20ul selling size