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Aliases for NDUFV1 Gene

Aliases for NDUFV1 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit V1 2 3 5
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 1, Mitochondrial 2 3
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 1, 51kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 51 KDa Subunit 3 4
  • Complex I 51kDa Subunit 2 3
  • UQOR1 3 4
  • Mitochondrial NADH:Ubiquinone Oxidoreductase 51 Kda Subunit 3
  • Mitochondrial NADH Dehydrogenase Ubiquinone Flavoprotein 1 3
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 1 (51kD) 2
  • Complex I, Mitochondrial Respiratory Chain 3
  • NADH Dehydrogenase Flavoprotein 1 4
  • Complex I 51 Kda Subunit 3
  • Complex I-51kD 4
  • EC 1.6.99.5 61
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-51kD 4
  • CI-51K 3
  • CI51KD 3

External Ids for NDUFV1 Gene

Previous GeneCards Identifiers for NDUFV1 Gene

  • GC11P069897
  • GC11P069070
  • GC11P067149
  • GC11P067130
  • GC11P067374
  • GC11P063703

Summaries for NDUFV1 Gene

Entrez Gene Summary for NDUFV1 Gene

  • 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.[provided by RefSeq, Oct 2009]

GeneCards Summary for NDUFV1 Gene

NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1) is a Protein Coding gene. Diseases associated with NDUFV1 include Mitochondrial Complex I Deficiency and Leigh Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for NDUFV1 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 NDUFV1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFV1 Gene

Genomics for NDUFV1 Gene

Regulatory Elements for NDUFV1 Gene

Enhancers for NDUFV1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G067579 1.7 Ensembl ENCODE dbSUPER 18.3 -22.5 -22516 10.2 CREB3L1 MLX ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 ENSG00000255119 NUDT8 PTPRCAP NDUFV1 RBM4B C11orf72 DOC2GP ALDH3B2 CDK2AP2 ACY3
GH11G067572 1.5 Ensembl ENCODE dbSUPER 16.2 -33.8 -33843 1.4 HDGF PKNOX1 ATF1 FOXA2 CREB3L1 ARNT ARID4B ZNF2 TCF12 ZNF143 NDUFV1 C11orf72 ENSG00000255119 DOC2GP NUDT8 TBX10 AIP ACY3 ENSG00000227834 ALDH3B2
GH11G067560 1.5 Ensembl ENCODE dbSUPER 15.9 -44.0 -43968 3.9 PKNOX1 ATF1 YY1 ZNF766 GATA2 ZNF207 FOS KLF13 DEK CAVIN1 PTPRCAP AIP NDUFV1 CLCF1 CABP2 C11orf72 ENSG00000255119 DOC2GP NUDT8 TBX10
GH11G067604 1.4 ENCODE dbSUPER 6.8 -0.2 -235 3.6 CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SSRP1 GLIS1 NBN ENSG00000255119 NUDT8 NDUFV1 CDK2AP2 C11orf72
GH11G067557 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -48.0 -47952 2.7 PKNOX1 ZFP64 ZNF121 RELB IKZF2 CBFB JUNB GATAD2B TBX21 SP1 PTPRCAP ALDH3B2 NDUFV1 NUDT8 CDK2AP2 GC11M067541 GSTP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFV1 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041133 148 1201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207

Genomic Location for NDUFV1 Gene

Chromosome:
11
Start:
67,606,852 bp from pter
End:
67,612,541 bp from pter
Size:
5,690 bases
Orientation:
Plus strand

Genomic View for NDUFV1 Gene

Genes around NDUFV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFV1 Gene

Proteins for NDUFV1 Gene

  • Protein details for NDUFV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49821-NDUV1_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
    Protein Accession:
    P49821
    Secondary Accessions:
    • O60924
    • O60940
    • Q16104
    • Q6IBR3
    • Q96BF8
    • Q96HS7

    Protein attributes for NDUFV1 Gene

    Size:
    464 amino acids
    Molecular mass:
    50817 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.

    Alternative splice isoforms for NDUFV1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFV1 Gene

Selected DME Specific Peptides for NDUFV1 Gene

P49821:
  • SGLRGRGGAGF
  • GAGAYICGEETA
  • YIYIRGE
  • CTPCREG

Post-translational modifications for NDUFV1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NDUFV1 Gene

Gene Families for NDUFV1 Gene

Graphical View of Domain Structure for InterPro Entry

P49821

UniProtKB/Swiss-Prot:

NDUV1_HUMAN :
  • Belongs to the complex I 51 kDa subunit family.
Family:
  • Belongs to the complex I 51 kDa subunit family.
genes like me logo Genes that share domains with NDUFV1: view

Function for NDUFV1 Gene

Molecular function for NDUFV1 Gene

GENATLAS Biochemistry:
NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),flavoprotein 1,located at the inner mitochondrial membrane,expressed in testis and pancreas
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + acceptor = NAD(+) + reduced acceptor.
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).

Enzyme Numbers (IUBMB) for NDUFV1 Gene

Gene Ontology (GO) - Molecular Function for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 8288251
GO:0010181 FMN binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NDUFV1: view
genes like me logo Genes that share phenotypes with NDUFV1: view

Human Phenotype Ontology for NDUFV1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NDUFV1 Gene

miRTarBase miRNAs that target NDUFV1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFV1 Gene

Localization for NDUFV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFV1 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

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 NDUFV1 gene
Compartment Confidence
mitochondrion 5
cytosol 4

Gene Ontology (GO) - Cellular Components for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFV1: view

Pathways & Interactions for NDUFV1 Gene

genes like me logo Genes that share pathways with NDUFV1: view

Gene Ontology (GO) - Biological Process for NDUFV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IMP 24746669
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFV1: view

No data available for SIGNOR curated interactions for NDUFV1 Gene

Drugs & Compounds for NDUFV1 Gene

(7) Drugs for NDUFV1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Flavin Mononucleotide Experimental Pharma 6
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
Coenzyme Q10 Experimental Nutra 121

(5) Additional Compounds for NDUFV1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
genes like me logo Genes that share compounds with NDUFV1: view

Transcripts for NDUFV1 Gene

Unigene Clusters for NDUFV1 Gene

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f ^
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4:
SP5:
SP6:
SP7: - - - - - -
SP8: - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - -
SP11: - - - - - - -
SP12:
SP13: - - - - -
SP14: - - - -
SP15: - - -
SP16: - -
SP17: - - - -
SP18: - - - - - - - - -
SP19: - - - - -
SP20: -

ExUns: 9a · 9b · 9c ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: - - - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for NDUFV1 Gene

GeneLoc Exon Structure for
NDUFV1
ECgene alternative splicing isoforms for
NDUFV1

Expression for NDUFV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFV1 Gene

This gene is overexpressed in Heart (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFV1 Gene



Protein tissue co-expression partners for NDUFV1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFV1 Gene:

NDUFV1

SOURCE GeneReport for Unigene cluster for NDUFV1 Gene:

Hs.7744

Evidence on tissue expression from TISSUES for NDUFV1 Gene

  • Nervous system(5)
  • Eye(4.7)
  • Kidney(4.7)
  • Liver(4.5)
  • Intestine(4.2)
  • Lung(4)
  • Muscle(3.5)
  • Heart(3.4)
  • Skin(3.4)
  • Stomach(3.3)
  • Blood(3.1)
  • Pancreas(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFV1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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 NDUFV1: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFV1 Gene

Orthologs for NDUFV1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFV1 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia NDUFV1 34 35
  • 90.95 (n)
cow
(Bos Taurus)
Mammalia NDUFV1 34 35
  • 90.59 (n)
mouse
(Mus musculus)
Mammalia Ndufv1 34 16 35
  • 89.77 (n)
rat
(Rattus norvegicus)
Mammalia Ndufv1 34
  • 89.77 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFV1 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFV1 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFV1 34 35
  • 82.03 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFV1 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufv1 34
  • 74.29 (n)
Str.3261 34
African clawed frog
(Xenopus laevis)
Amphibia ndufv1-prov 34
zebrafish
(Danio rerio)
Actinopterygii ndufv1 34 35
  • 75.32 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8347 34
fruit fly
(Drosophila melanogaster)
Insecta CG11423 36 35
  • 74 (a)
CG9140 36 34 35
  • 73.19 (n)
CG8102 36 35
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010039 34
  • 72.98 (n)
worm
(Caenorhabditis elegans)
Secernentea nuo-1 34 35
  • 67.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CI51 34
  • 67.22 (n)
soybean
(Glycine max)
eudicotyledons Gma.10702 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.367 34
rice
(Oryza sativa)
Liliopsida Os07g0645400 34
  • 66.51 (n)
Os.7359 34
barley
(Hordeum vulgare)
Liliopsida Hv.3082 34
wheat
(Triticum aestivum)
Liliopsida Ta.28740 34
corn
(Zea mays)
Liliopsida Zm.6628 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 78 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04044 34
  • 68.21 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2993 34
Species where no ortholog for NDUFV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NDUFV1 Gene

ENSEMBL:
Gene Tree for NDUFV1 (if available)
TreeFam:
Gene Tree for NDUFV1 (if available)

Paralogs for NDUFV1 Gene

No data available for Paralogs for NDUFV1 Gene

Variants for NDUFV1 Gene

Sequence variations from dbSNP and Humsavar for NDUFV1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs121913659 Pathogenic, Leigh syndrome (LS) [MIM:256000] 67,612,225(+) CCATA(C/T)GATTT reference, missense
rs121913660 Uncertain significance, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 67,611,511(+) CGATG(C/T)GCTGG reference, missense
rs121913661 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 67,610,510(+) TCATC(A/G)AGTCC reference, missense
rs750831299 Pathogenic 67,609,490(+) GGAGC(C/T)GGGCA reference, missense
rs757486575 Pathogenic 67,609,474(+) TGAAC(A/G)CAGAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NDUFV1 Gene

Variant ID Type Subtype PubMed ID
dgv1214n100 CNV gain 25217958
dgv154n27 CNV loss 19166990
dgv1981n54 CNV gain 21841781
dgv1982n54 CNV loss 21841781
esv2422195 CNV duplication 17116639
nsv468606 CNV gain 19166990
nsv951023 CNV deletion 24416366

Variation tolerance for NDUFV1 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFV1 Gene

Human Gene Mutation Database (HGMD)
NDUFV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFV1 Gene

Disorders for NDUFV1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFV1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
alexander disease
  • alexander's disease
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUV1_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10080174}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269 PubMed:10080174, ECO:0000269 PubMed:11349233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NDUFV1 Gene

myoclonic epilepsy,hypotonia,leukodystrophy,complex 1 deficiency

Relevant External Links for NDUFV1

Genetic Association Database (GAD)
NDUFV1
Human Genome Epidemiology (HuGE) Navigator
NDUFV1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFV1
genes like me logo Genes that share disorders with NDUFV1: view

Publications for NDUFV1 Gene

  1. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PMID: 11349233) Benit P. … Roetig A. (Am. J. Hum. Genet. 2001) 3 4 22 64
  2. Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. (PMID: 8288251) Ali S.T. … Robinson B.H. (Genomics 1993) 3 4 22 64
  3. The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13. (PMID: 1478657) Spencer S.R. … Ketterer B. (Genomics 1992) 2 3 4 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64

Products for NDUFV1 Gene

Sources for NDUFV1 Gene

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