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Description for Protein NDUFV2

NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
3 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 3)
Summary:
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available

Gene Ontology:
Gene Ontology Annotations

KEGG - Enzyme ID(s):
1.6.5.3; 1.6.99.3
KEGG - Orthology:
K03943
KEGG - Pathway(s):
hsa00190; hsa01100; hsa05010; hsa05012; hsa05016
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
NADH dehydrogenase (ubiquinone) flavoprotein 2; Complex 1, mitochondrial respiratory chain, 24 KD subunit; NADH ubiquinone oxidoreductase 24 kDa subunit, mitochondrial
Approved Symbol:
NDUFV2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites

Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • NADH(db)


    Associated Genetic Diseases:

  • Mitochondrial complex I deficiency(Pd);
  • Parkinson disease, susceptibility to(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 02757 Entrez Gene ID: 4729 OMIM ID: 600532 Swissprot Accession: P19404Q6IPW4