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NDUFA8 Gene

protein-coding   GIFtS: 62
GCID: GC09M124906

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8, 19kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD,...)
  See NDUFA8-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8, 19kDa1 2     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 8 (19kD, PGIV)1
Complex I PGIV Subunit1 2     CI-19KD2
Complex I-19kD2 3     PGIV2
Complex I-PGIV2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 82
CI-PGIV2 3     NADH:Ubiquinone Oxidoreductase PGIV Subunit2
NADH-Ubiquinone Oxidoreductase 19 KDa Subunit2 3     CI-19kD3

External Ids:    HGNC: 76921   Entrez Gene: 47022   Ensembl: ENSG000001194217   OMIM: 6033595   UniProtKB: P519703   

Export aliases for NDUFA8 gene to outside databases

Previous GC identifers: GC09M116010 GC09M116552 GC09M118360 GC09M120282 GC09M121985 GC09M123946 GC09M094521


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NDUFA8 Gene:
The protein encoded by this gene belongs to the complex I 19 kDA subunit family. Mammalian complex I is composed
of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an
important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for
the enzyme is believed to be ubiquinone. (provided by RefSeq, Jul 2008)

GeneCards Summary for NDUFA8 Gene:
NDUFA8 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa) is a protein-coding gene. Diseases associated with NDUFA8 include mitochondrial complex i deficiency, and leigh disease. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUA8_HUMAN, P51970
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
is believed not to be involved in 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

Gene Wiki entry for NDUFA8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA8 gene promoter:
         STAT5B   GR   GATA-3   Brachyury   GR-beta   POU3F1   STAT5A   GATA-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA8 promoter sequence
   Search Chromatin IP Primers for NDUFA8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33.2   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q33.2

NDUFA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA8 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M124906:  view genomic region     (about GC identifiers)

Start:
124,894,745 bp from pter      End:
124,922,098 bp from pter
Size:
27,354 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NDUA8_HUMAN, P51970 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8  
Size: 172 amino acids; 20105 Da
Subunit: Complex I is composed of 45 different subunits
Secondary accessions: B1AM93 Q9Y6N0

Explore the universe of human proteins at neXtProt for NDUFA8: NX_P51970

Explore proteomics data for NDUFA8 at MOPED

Post-translational modifications: 

  • May contain intrachain disulfide bonds, as evidenced by its electrophoretic mobility under reducing vs
    non-reducing conditions1
  • Ubiquitination2 at Lys19, Lys65, Lys106, Lys114
  • Modification sites at PhosphoSitePlus

  • See NDUFA8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055037.1  
    ENSEMBL proteins: 
     ENSP00000362873   ENSP00000442247  
    Reactome Protein details: P51970

    NDUFA8 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for NDUFA8 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    comI: Mitochondrial respiratory chain complex / Complex I

    2 InterPro protein domains:
     IPR010625 CHCH
     IPR016680 NADH_Ub_cplx-1_asu_su-8

    Graphical View of Domain Structure for InterPro Entry P51970

    ProtoNet protein and cluster: P51970

    1 Blocks protein domain: IPB010625 CHCH

    UniProtKB/Swiss-Prot: NDUA8_HUMAN, P51970
    Domain: Contains four C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the
    formation of intramolecular disulfide bonds
    Similarity: Belongs to the complex I NDUFA8 subunit family
    Similarity: Contains 2 CHCH domains


    Find genes that share domains with NDUFA8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUA8_HUMAN, P51970
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
    is believed not to be involved in 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

         Genatlas biochemistry entry for NDUFA8:
    NADH ubiquinone oxidoreductase (Q reductase),19kDa,component alpha 8,hydrophobic fraction of the complex I
    multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),expressed in fetal and adult heart,skeletal
    muscle,unlikely to be a common cause of complex I deficiency

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0032403protein complex binding IDA--
         
    Find genes that share ontologies with NDUFA8           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Ndufa8 (no phenotypes)

    Find genes that share phenotypes with NDUFA8           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFA8
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    hsa-miR-224 hsa-miR-522 hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidNDUFA8 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NDUA8_HUMAN, P51970: Mitochondrion. Mitochondrion intermembrane space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0005758mitochondrial intermembrane space IDA--

    Find genes that share ontologies with NDUFA8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NDUFA8 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.57
    Respiratory electron transport0.81
    Oxidative phosphorylation0.51
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44


    Find genes that share SuperPaths with NDUFA8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFA8
        Oxidative phosphorylation
    Electron Transport Chain


    1 Reactome Pathway for NDUFA8
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFA8) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA8: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFA8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NDUFA8 (P519702, 3 ENSP000003628734) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFS3O754892, 3, ENSP000002637744MINT-8088857 I2D: score=1 STRING: ENSP00000263774
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    PAHP004393I2D: score=5 
    RALBP1Q153113I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NDUFA8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFA8 (NDUA8)

    8 HMDB Compounds for NDUFA8    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for NDUFA8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423 9860297



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NDUFA8 gene: 
    NM_014222.2  

    Unigene Cluster for NDUFA8:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa
    Hs.495039  [show with all ESTs]
    Unigene Representative Sequence: BM464397
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373768(uc004blv.3) ENST00000537618
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidNDUFA8 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF044953.1 AK301520.1 AK314135.1 BC001016.2 

    7 DOTS entries:

    DT.216616  DT.121199640  DT.121199650  DT.92429636  DT.95074939  DT.95074941  DT.95074940 

    Selected AceView cDNA sequences (see all 322):

    BU189378 CB163438 BM310817 BM792970 CB177997 F28846 NM_014222 BU070621 
    BM504009 CR615048 BI759530 AA642688 F35271 BU952253 BU185259 BM312130 
    BM791924 CF527901 BG108553 AA494406 BU949460 F34797 AA341769 BM797362 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA8    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
    SP1:                                    
    SP2:              -                     


    ECgene alternative splicing isoforms for NDUFA8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NDUFA8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGTTTGCAT
    NDUFA8 Expression
    About this image


    NDUFA8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    NDUFA8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495039
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA8: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NDUFA8 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa81 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 84.02(n)1
    87.13(a)1
      2 (24.13 cM)5
    683751  NM_026703.21  NP_080979.11 
     360363265 
    chicken
    (Gallus gallus)
    Aves NDUFA81 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 72.32(n)
    76.61(a)
      417112  NM_001277655.1  NP_001264584.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA86
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex...
    76(a)
    1 ↔ 1
    AAWZ02039620(3234-6671)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.69702 Xenopus laevis transcribed sequence with moderate similarity more 76.58(n)    CB592345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731392 hypothetical protein MGC73139 76.02(n)   393700  BC059501.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36831 , 3 NADH dehydrogenase (ubiquinone)3
    CG36831
    46(a)3
    53.62(n)1
    47.83(a)1
      60D133
    379461  NM_001169825.11  NP_001163296.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54F10AM.51 Y54F10AM.5 44.36(n)
    34.59(a)
      175371  NM_065173.4  NP_497574.2 


    ENSEMBL Gene Tree for NDUFA8 (if available)
    TreeFam Gene Tree for NDUFA8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFA8 gene

    Find genes that share paralogs with NDUFA8           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NDUFA8
    PGOHUM00000238537


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NDUFA8 (see all 317)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361764
    A breast cancer sample4--see VAR_0361762 N H mis40--------
    rs1927608591,2
    --124905941(+) AAGTTC/GGGTTC 1 -- ds50010--------
    rs1133294331,2
    C,F--124906027(+) TTTCTG/ACACTT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs41476591,2
    C,F--124906039(-) CCTCCA/GGGATA 1 -- ds500111Minor allele frequency- G:0.36NA WA CSA EA 510
    rs1848236051,2
    C--124906117(+) GACTTC/TAAAAT 1 -- ds50010--------
    rs1450194271,2
    --124906202(+) TTCTAA/TCAGGG 1 -- ds50010--------
    rs787246961,2
    C--124906212(+) GATCCC/GCAGCC 1 -- ds50010--------
    rs1478327861,2
    C--124906320(+) AAAAC-/ATAATAA 1 -- ds50010--------
    rs1894306201,2
    --124906384(+) ACTGCC/GAAGTC 1 -- ut310--------
    rs68221,2
    C,F,O,A,H--124906456(-) CATGCG/AGTTTG 1 -- ut31 ese330Minor allele frequency- A:0.24EA MN NA NS WA CSA 4013

    HapMap Linkage Disequilibrium report for NDUFA8 (124894745 - 124922098 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NDUFA8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6702CNV Insertion18451855
    nsv831715CNV Gain17160897
    nsv893819CNV Gain21882294

    Human Gene Mutation Database (HGMD): NDUFA8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA8
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603359    OMIM disorders: --

    2 diseases for NDUFA8:    
    About MalaCards
    mitochondrial complex i deficiency    leigh disease

    2 diseases from the University of Copenhagen DISEASES database for NDUFA8:
    Leigh disease     Mitochondrial encephalomyopathy

    Find genes that share disorders with NDUFA8           About GenesLikeMe

    Genetic Association Database (GAD): NDUFA8
    Human Genome Epidemiology (HuGE) Navigator: NDUFA8 (5 documents)

    Export disorders for NDUFA8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NDUFA8 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with NDUFA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients. (PubMed id 9860297)1, 2, 7, 9 Triepels R....Smeitink J. (Hum. Genet. 1998)
    2. NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. (PubMed id 21310150)1, 2 Szklarczyk R....Huynen M.A. (FEBS Lett. 2011)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    6. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (Mech. Ageing Dev. 2008)
    7. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (BMC Genet. 2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (J. Biol. Chem. 2003)
    10. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PubMed id 9763677)1, 3 Emahazion T....Brookes A.J. (Cytogenet. Cell Genet. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4702 HGNC: 7692 AceView: NDUFA8 Ensembl:ENSG00000119421 euGenes: HUgn4702
    ECgene: NDUFA8 Kegg: 4702 H-InvDB: NDUFA8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NDUFA8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFA8 gene:
    Search GeneIP for patents involving NDUFA8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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