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NDUFA6 Gene

protein-coding   GIFtS: 59
GCID: GC22M042481

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 6, 14kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD,...)
  See NDUFA6-related disease
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, 6, 14kDa1 2     LYR Motif-Containing Protein 62 3
Complex I B14 Subunit1 2     NADH-Ubiquinone Oxidoreductase B14 Subunit2 3
CI-B142 3     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 6 (14kD, B14)1
LYRM62 3     B142
NADHB142 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 62
Complex I-B142 3     NADH-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, 62

External Ids:    HGNC: 76901   Entrez Gene: 47002   Ensembl: ENSG000001849837   OMIM: 6021385   UniProtKB: P565563   

Export aliases for NDUFA6 gene to outside databases

Previous GC identifers: GC22M039096 GC22M040724 GC22M040806 GC22M040811 GC22M025447


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NDUFA6 Gene:
NDUFA6 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa) is a protein-coding gene. Diseases associated with NDUFA6 include 21-hydroxylase deficiency. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUA6_HUMAN, P56556
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
is believed to be not 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 NDUFA6 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_000022.10  NC_018933.2  NT_011520.13  NT_187682.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA6 gene promoter:
         GR   FOXD3   POU6F1 (c2)   HNF-4alpha2   Evi-1   HNF-4alpha1   GATA-1   AREB6   Cart-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA6 promoter sequence
   Search Chromatin IP Primers for NDUFA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA6


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

Entrez Gene cytogenetic band: 22q13.2   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.2

NDUFA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M042481:  view genomic region     (about GC identifiers)

Start:
42,481,529 bp from pter      End:
42,486,959 bp from pter
Size:
5,431 bases      Orientation:
minus strand

1 alternative location:
Chr22-,NW_003315971 3,567-8,925     

(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: NDUA6_HUMAN, P56556 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6  
Size: 154 amino acids; 17871 Da
Subunit: Mammalian complex I is composed of 45 different subunits
Caution: It is uncertain whether Met-1 or Met-27 is the initiator
Sequence caution: Sequence=AAC04267.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAF84563.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG38151.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW60489.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: B2RE54 O43675 Q6FGW0 Q6IBT8 Q6IC39

Explore the universe of human proteins at neXtProt for NDUFA6: NX_P56556

Explore proteomics data for NDUFA6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys44, Lys142, Lys147
  • Modification sites at PhosphoSitePlus

  • See NDUFA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002481.2  
    ENSEMBL proteins: 
     ENSP00000473461   ENSP00000418842   ENSP00000473478  
    Reactome Protein details: P56556

    NDUFA6 Human Recombinant Protein Products:

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    (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
    LYRM: LYR motif containing

    2 InterPro protein domains:
     IPR008011 Complex1_LYR
     IPR016488 NADH_Ub_cplx-1_asu_su-6

    Graphical View of Domain Structure for InterPro Entry P56556

    ProtoNet protein and cluster: P56556

    1 Blocks protein domain: IPB008011 Complex 1 LYR protein

    UniProtKB/Swiss-Prot: NDUA6_HUMAN, P56556
    Similarity: Belongs to the complex I LYR family


    Find genes that share domains with NDUFA6           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: NDUA6_HUMAN, P56556
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
    is believed to be not 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 NDUFA6:
    NADH ubiquinone oxidoreductase (Q reductase),14kDa,component alpha 6,hydrophobic fraction of the complex I
    multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
         
    Find genes that share ontologies with NDUFA6           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFA6
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    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate NDUFA6:
    hsa-miR-4251 hsa-miR-181a-2* hsa-miR-552 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidNDUFA6 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
    NDUA6_HUMAN, P56556: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0031966mitochondrial membrane IDA17209039

    Find genes that share ontologies with NDUFA6           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 NDUFA6 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 NDUFA6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFA6
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for NDUFA6
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFA6) (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 NDUFA6: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFA6

    Selected Interacting proteins for NDUFA6 (P565562, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3MINT-63909 I2D: score=5 
    ENSG00000096155P463792, 3MINT-63909 I2D: score=5 
    ENSG00000227761P463792, 3MINT-63909 I2D: score=5 
    ENSG00000228760P463792, 3MINT-63909 I2D: score=5 
    ENSG00000229524P463792, 3MINT-63909 I2D: score=5 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0006979response to oxidative stress IDA12857734
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NDUFA6           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 NDUFA6 (NDUA6)

    8 HMDB Compounds for NDUFA6    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 NDUFA6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (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 NDUFA6 gene: 
    NM_002490.3  

    Unigene Cluster for NDUFA6:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
    Hs.274416  [show with all ESTs]
    Unigene Representative Sequence: NM_002490
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000602404 ENST00000498737(uc003bcb.3) ENST00000470753
    miRNA
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    hsa-miR-4251 hsa-miR-181a-2* hsa-miR-552 hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidNDUFA6 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat NDUFA6

    Additional mRNA sequence: 

    AF047182.1 AK291874.1 AK316562.1 BC002772.1 CR456529.1 CR456714.1 CR541997.1 

    16 DOTS entries:

    DT.91942773  DT.317941  DT.91965491  DT.91995455  DT.120667061  DT.40123356  DT.120667023  DT.92055462 
    DT.100822440  DT.101987219  DT.91994536  DT.99991968  DT.120667072  DT.95241609  DT.97847080  DT.95241578 

    Selected AceView cDNA sequences (see all 386):

    F20629 BC002772 AA836976 AI634390 AV681555 BU662621 CA427429 AI382147 
    BF663346 AI284187 BE892857 CR620155 BG683187 CR541997 AI096941 CB126700 
    CN480747 AI334121 AA565037 AI572519 AI174763 BU160089 CD367827 BU688729 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA6    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c
    SP1:                    -                           
    SP2:              -     -                           
    SP3:                                                


    ECgene alternative splicing isoforms for NDUFA6

    (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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    NDUFA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NDUFA6 Expression
    About this image


    NDUFA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
    NDUFA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.274416
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA6: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA6

    (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 NDUFA6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa61 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 87.93(n)1
    88.19(a)1
      15 (38.56 cM)5
    671301  NM_025987.31  NP_080263.11 
     823501395 
    chicken
    (Gallus gallus)
    Aves NDUFA61 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 77.98(n)
    84.82(a)
      427897  NM_001278108.1  NP_001265037.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA66
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex...
    75(a)
    1 ↔ 1
    5(27098391-27101609)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.101862 Xenopus laevis transcribed sequence with moderate similarity more 71.61(n)    48060568 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc567172 similar to NADH dehydrogenase (ubiquinone) 1 alpha more 77.55(n)   393943  BC042332.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77121 , 3 NADH dehydrogenase (ubiquinone)3
    CG77121
    48(a)3
    56.01(n)1
    50(a)1
      47C33
    361591  NM_001273948.11  NP_001260877.11 


    ENSEMBL Gene Tree for NDUFA6 (if available)
    TreeFam Gene Tree for NDUFA6 (if available)

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

    (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 NDUFA6 (see all 102)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
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    ----------
    rs72889801,2
    C,F--42481032(+) aacacT/Cttggg 1 -- ds50011Minor allele frequency- C:0.07WA 118
    rs1483651141,2
    C--42481042(+) GAGGCA/GGAGGC 1 -- ds50010--------
    rs1407168751,2
    --42481088(+) CCTGGC/GCGCGG 1 -- ds50010--------
    rs1903764991,2
    --42481122(+) GGCCAC/TGGCGG 1 -- ds50010--------
    rs1147672891,2
    C,F--42481123(+) GCCACG/AGCGGG 1 -- ds50011Minor allele frequency- A:0.09WA 118
    rs1829733781,2
    --42481221(+) TGGTGA/GTCCAT 1 -- ds50010--------
    rs57585741,2
    C,F,A--42481400(+) gagacC/Gccatc 1 -- ds500110Minor allele frequency- G:0.36WA NA CSA EA 370
    rs2014149691,2
    C--42481410(+) TCTCT-/TTTAAA 1 -- ds50010--------
    rs72895921,2
    C,F,A--42481412(+) ctattT/Aaaaaa 1 -- ds50012Minor allele frequency- A:0.50WA NA 4
    rs1869415181,2
    --42481528(+) ACAGAA/GATCAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NDUFA6 (42481529 - 42486959 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NDUFA6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508737CNV Insertion20534489
    dgv4981n71CNV Loss21882294
    nsv834210CNV Loss17160897
    nsv915161CNV Loss21882294

    Human Gene Mutation Database (HGMD): NDUFA6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA6
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA6

    (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.)
    About This Section

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    OMIM gene information: 602138    OMIM disorders: --

    1 disease for NDUFA6:    
    About MalaCards
    21-hydroxylase deficiency


    Find genes that share disorders with NDUFA6           About GenesLikeMe

    Genetic Association Database (GAD): NDUFA6
    Human Genome Epidemiology (HuGE) Navigator: NDUFA6 (5 documents)

    Export disorders for NDUFA6 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)
    About This Section

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    PubMed articles for NDUFA6 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with NDUFA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PubMed id 9425316)1, 2, 3 Ton C.... Liew C.-C. (Biochem. Biophys. Res. Commun. 1997)
    2. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    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. 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)
    5. 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)
    6. 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)
    7. 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)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 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. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)

    (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)
    About This Section

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    Entrez Gene: 4700 HGNC: 7690 AceView: NDUFA6 Ensembl:ENSG00000184983 euGenes: HUgn4700
    ECgene: NDUFA6 Kegg: 4700 H-InvDB: NDUFA6

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NDUFA6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for NDUFA6 gene:
    Search GeneIP for patents involving NDUFA6

    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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