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MGP002070

Record overview

MGPD IDMGP002070
Gene ID4729
SpeciesHomo sapiens (Human)
Gene NameNADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Gene Symbol NDUFV2
SynonymsCI-24k;
Alternate namesNADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial; NADH-ubiquinone oxidoreductase 24 kDa subunit; NADH-ubiquinone oxidoreductase flavoprotein 2; complex I 24kDa subunit; complex I, mitochondrial respitory chain, 24 kD subunit; nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit;
Chromosome18
Map Location18p11.22
EC Number1.6.5.3
SummaryThe 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, Oct 2009]
OrthologsView orthologs and multiple alignments for NDUFV2

Proteins

NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor
Refseq ID:NP_066552
Protein GI:222080062
UniProt ID:P19404
mRNA ID:NM_021074
Length:249
RefSeq Status:
MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNK
VAEVLQVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKD
IEEIIDELKAGKIPKPGPRSGRFSCEPAGGLTSLTEPPKGPGFGVQAGL
 
transit_peptide: 1..32
calculated_mol_wt: 3649
peptide sequence: 
MFFSAALRARAAGLTAHWGRHVRNLHKTVMQN

mat_peptide: 33..249
product: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
calculated_mol_wt: 23760
peptide sequence: 
GAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYTMYNRKPVGKYHI
QVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGPRSGRFSCEPAGGLT
SLTEPPKGPGFGVQAGL
 
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