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 ... See more...

Aliases for NDUFV2 Gene

Aliases for NDUFV2 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit V2 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 2, Mitochondrial 2 3 4
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 2, 24kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 24 KDa Subunit 3 4
  • Complex I 24kDa Subunit 2 3
  • Nuclear-Encoded Mitochondrial NADH-Ubiquinone Reductase 24Kd Subunit 3
  • NADH Dehydrogenase Ubiquinone Flavoprotein 2, Mitochondrial 3
  • Complex I, Mitochondrial Respitory Chain, 24 KD Subunit 3
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 2 (24kD) 2
  • NADH-Ubiquinone Oxidoreductase Flavoprotein 2 3
  • EC 1.6.99.3 4
  • EC 7.1.1.2 4
  • CI-24k 3
  • MC1DN7 3

External Ids for NDUFV2 Gene

Previous GeneCards Identifiers for NDUFV2 Gene

  • GC19M054373
  • GC18P009159

Summaries for NDUFV2 Gene

Entrez Gene Summary for NDUFV2 Gene

  • 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, Oct 2009]

GeneCards Summary for NDUFV2 Gene

NDUFV2 (NADH:Ubiquinone Oxidoreductase Core Subunit V2) is a Protein Coding gene. Diseases associated with NDUFV2 include Mitochondrial Complex I Deficiency, Nuclear Type 7 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFV2 Gene

  • Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Gene Wiki entry for NDUFV2 Gene

Additional gene information for NDUFV2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFV2 Gene

Genomics for NDUFV2 Gene

GeneHancer (GH) Regulatory Elements for NDUFV2 Gene

Promoters and enhancers for NDUFV2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J009100 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 506.3 +2.8 2764 8.8 HNRNPK ZBTB40 EP300 SIN3A TCF12 POLR2G NCOR1 GTF2E2 ZFX ZNF639 NDUFV2 lnc-ANKRD12-2 ANKRD12 TWSG1 ENSG00000263847 ENSG00000266708 PPP4R1 RAB12 ENSG00000265257 NDUFV2-AS1-001
GH18J009133 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.6 +34.8 34819 8.3 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 NCOR1 ANKRD12 NDUFV2-AS1 NDUFV2 TWSG1 piR-57461-094 ENSG00000265257
GH18J009073 Enhancer 1.2 ENCODE dbSUPER 13.1 -28.7 -28732 1.4 FOXK2 CTCF ZSCAN5C MYC TCF12 USF1 TEAD4 FOS POLR2A REST lnc-NDUFV2-2 NDUFV2 HSALNG0119900 NDUFV2-AS1
GH18J009130 Enhancer 0.7 Ensembl dbSUPER 18.7 +28.6 28571 0.8 ZNF316 MAFF MAFK MAFG ZBTB40 FOS EMSY NDUFV2 ANKRD12 NDUFV2-AS1 ENSG00000263847 ENSG00000265257
GH18J009131 Enhancer 0.5 Ensembl dbSUPER 18.9 +29.5 29471 0.6 RBM22 ZNF354B NDUFV2 TWSG1 ANKRD12 NDUFV2-AS1 ENSG00000263847 ENSG00000265257
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFV2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFV2

Top Transcription factor binding sites by QIAGEN in the NDUFV2 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • p53
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for NDUFV2 Gene

Genomic Locations for NDUFV2 Gene
chr18:9,102,630-9,134,345
(GRCh38/hg38)
Size:
31,716 bases
Orientation:
Plus strand
chr18:9,102,628-9,134,343
(GRCh37/hg19)
Size:
31,716 bases
Orientation:
Plus strand

Genomic View for NDUFV2 Gene

Genes around NDUFV2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFV2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFV2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFV2 Gene

Proteins for NDUFV2 Gene

  • Protein details for NDUFV2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19404-NDUV2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
    Protein Accession:
    P19404
    Secondary Accessions:
    • Q9BV41

    Protein attributes for NDUFV2 Gene

    Size:
    249 amino acids
    Molecular mass:
    27392 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.

    Three dimensional structures from OCA and Proteopedia for NDUFV2 Gene

neXtProt entry for NDUFV2 Gene

Post-translational modifications for NDUFV2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFV2 Gene

No data available for DME Specific Peptides for NDUFV2 Gene

Domains & Families for NDUFV2 Gene

Gene Families for NDUFV2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NDUFV2 Gene

Blocks:
  • NADH dehydrogenase (ubiquinone), 24 kDa subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFV2 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase 24 kDa subunit (NDUV2_HUMAN)
  • NDUFV2 protein (Q6IB76_HUMAN)
  • cDNA, FLJ92411, Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa(NDUFV2), mRNA (Q6IPW4_HUMAN)
  • 24-kDa subunit of complex I (Q9UEH5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19404

UniProtKB/Swiss-Prot:

NDUV2_HUMAN :
  • Belongs to the complex I 24 kDa subunit family.
Family:
  • Belongs to the complex I 24 kDa subunit family.
genes like me logo Genes that share domains with NDUFV2: view

Function for NDUFV2 Gene

Molecular function for NDUFV2 Gene

UniProtKB/Swiss-Prot Function:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA-COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=A + H(+) + NADH = AH2 + NAD(+); Xref=Rhea:RHEA:11356, ChEBI:CHEBI:13193, ChEBI:CHEBI:15378, ChEBI:CHEBI:17499, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.6.99.3;.
GENATLAS Biochemistry:
NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),flavoprotein 2,inner mitochondrial membrane,involved in the susceptibility to Parkinson disease

Enzyme Numbers (IUBMB) for NDUFV2 Gene

Phenotypes From GWAS Catalog for NDUFV2 Gene

Gene Ontology (GO) - Molecular Function for NDUFV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003954 contributes_to NADH dehydrogenase activity IBA 21873635
GO:0005515 protein binding IPI 28380382
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9570948
GO:0009055 electron transfer activity NAS 7488192
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with NDUFV2: view
genes like me logo Genes that share phenotypes with NDUFV2: view

Human Phenotype Ontology for NDUFV2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFV2

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NDUFV2 Gene

Localization for NDUFV2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFV2 Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFV2 gene
Compartment Confidence
mitochondrion 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 12754703
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFV2: view

Pathways & Interactions for NDUFV2 Gene

genes like me logo Genes that share pathways with NDUFV2: view

SIGNOR curated interactions for NDUFV2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NDUFV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0007399 nervous system development IMP 9570948
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0048738 cardiac muscle tissue development IMP 12754703
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFV2: view

Drugs & Compounds for NDUFV2 Gene

(7) Drugs for NDUFV2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1496
Coenzyme Q10 Approved, Investigational Nutra 159
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(3) Additional Compounds for NDUFV2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFV2: view

Transcripts for NDUFV2 Gene

mRNA/cDNA for NDUFV2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFV2

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV2 Gene

No ASD Table

Relevant External Links for NDUFV2 Gene

GeneLoc Exon Structure for
NDUFV2

Expression for NDUFV2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFV2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFV2 Gene

This gene is overexpressed in Heart (12.0) and Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFV2 Gene



Protein tissue co-expression partners for NDUFV2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFV2

SOURCE GeneReport for Unigene cluster for NDUFV2 Gene:

Hs.464572

Evidence on tissue expression from TISSUES for NDUFV2 Gene

  • Liver(4.5)
  • Lung(4.5)
  • Nervous system(3.4)
  • Heart(2.9)
  • Muscle(2.8)
  • Kidney(2.6)
  • Spleen(2.3)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFV2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFV2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFV2 Gene

Orthologs for NDUFV2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFV2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFV2 31 30
  • 99.6 (n)
OneToMany
-- 31
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFV2 31 30
  • 94.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFV2 31 30
  • 92.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufv2 17 31 30
  • 90.46 (n)
rat
(Rattus norvegicus)
Mammalia Ndufv2 30
  • 89.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFV2 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFV2 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFV2 31 30
  • 79.28 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFV2 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufv2 30
  • 75.04 (n)
Str.10186 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.20944 30
zebrafish
(Danio rerio)
Actinopterygii ndufv2 31 30
  • 71.96 (n)
OneToOne
zgc73198 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9087 30
fruit fly
(Drosophila melanogaster)
Insecta CG5703 31 32 30
  • 64.04 (n)
OneToMany
CG6485 31 32
  • 44 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002170 30
  • 63.05 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_F53F4.10 30
  • 64.89 (n)
F53F4.10 31 32
  • 63 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02580 30
  • 57.17 (n)
rice
(Oryza sativa)
Liliopsida Os05g0509200 30
  • 54.85 (n)
Os.11069 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5226 31
  • 72 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01169 30
  • 59.64 (n)
Species where no ortholog for NDUFV2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFV2 Gene

ENSEMBL:
Gene Tree for NDUFV2 (if available)
TreeFam:
Gene Tree for NDUFV2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFV2: view image

Paralogs for NDUFV2 Gene

Pseudogenes.org Pseudogenes for NDUFV2 Gene

genes like me logo Genes that share paralogs with NDUFV2: view

No data available for Paralogs for NDUFV2 Gene

Variants for NDUFV2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFV2 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
669519 Benign: not provided 9,117,564(+) C/T INTRON_VARIANT
669520 Benign: not provided 9,119,037(+) T/G INTRON_VARIANT
675925 Likely Benign: not provided 9,125,113(+) T/G INTRON_VARIANT
676088 Likely Benign: not provided 9,122,488(+) A/G INTRON_VARIANT
678068 Benign: not provided 9,119,158(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFV2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFV2 Gene

Variant ID Type Subtype PubMed ID
esv2664728 CNV deletion 23128226
esv3641733 CNV loss 21293372

Variation tolerance for NDUFV2 Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 59.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFV2 Gene

Human Gene Mutation Database (HGMD)
NDUFV2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFV2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFV2 Gene

Disorders for NDUFV2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for NDUFV2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 7
  • mc1dn7
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
parkinson disease, mitochondrial
bipolar disorder
  • major affective disorder 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUV2_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 7 (MC1DN7) [MIM:618229]: 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. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:12754703, ECO:0000269 PubMed:26008862}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFV2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFV2: view

No data available for Genatlas for NDUFV2 Gene

Publications for NDUFV2 Gene

  1. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. (PMID: 12754703) Bénit P … Munnich A (Human mutation 2003) 3 4 23 54
  2. Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene. (PMID: 7607668) de Coo R … van Oost B (Genomics 1995) 2 3 23 54
  3. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. (PMID: 26008862) Cameron JM … Schulze A (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2015) 3 4 54
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54

Products for NDUFV2 Gene

Sources for NDUFV2 Gene