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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFA12 Gene

protein-coding   GIFtS: 60
GCID: GC12M095291

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 12

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 121 2     NADH-Ubiquinone Oxidoreductase Subunit B17.22 3
Complex I B17.2 Subunit1 2     B17.22
13 KDa Differentiation-Associated Protein2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 122
CI-B17.22 3     CIB17.23
DAP132 3     Complex I-B17.23

External Ids:    HGNC: 239871   Entrez Gene: 559672   Ensembl: ENSG000001847527   OMIM: 6145305   UniProtKB: Q9UI093   

Export aliases for NDUFA12 gene to outside databases

Previous GC identifers: GC12M093868 GC12M095365 GC12M092432


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NDUFA12 Gene:
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system
in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for
the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1
deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Apr 2012)

GeneCards Summary for NDUFA12 Gene: 
NDUFA12 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12) is a protein-coding gene. Diseases associated with NDUFA12 include orbital cancer, and placenta praevia, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include NADH dehydrogenase activity and electron carrier activity.

UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09
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 NDUFA12 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFA12 gene promoter:
         GR   TBP   CUTL1   POU2F1   Ik-2   FOXJ2 (long isoform)   POU2F1a   FOXJ2   GR-alpha   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA12 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFA12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFA12


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

Entrez Gene cytogenetic band: 12q22   Ensembl cytogenetic band:  12q22   HGNC cytogenetic band: 12q22

NDUFA12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA12 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M095291:  view genomic region     (about GC identifiers)

Start:
95,290,831 bp from pter      End:
95,397,546 bp from pter
Size:
106,716 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12  
Size: 145 amino acids; 17114 Da
Subunit: Complex I is composed of 45 different subunits
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Secondary accessions: F8VQS7 Q53XX0 Q9BRV6
Alternative splicing: 2 isoforms:  Q9UI09-1   Q9UI09-2   (No experimental confirmation available. Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for NDUFA12: NX_Q9UI09

Explore proteomics data for NDUFA12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UI09

  • NDUFA12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFA12 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001245267.1  NP_061326.1  

    ENSEMBL proteins: 
     ENSP00000449144   ENSP00000448846   ENSP00000450096   ENSP00000330737   ENSP00000450130  
     ENSP00000448545  
    Reactome Protein details: Q9UI09
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I IDA12611891
    GO:0016020membrane ----

    NDUFA12 for ontologies           About GeneDecksing



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

    1 InterPro protein domain:
     IPR007763 NADH_UbQ_OxRdtase_17.2kDa_su

    Graphical View of Domain Structure for InterPro Entry Q9UI09

    ProtoNet protein and cluster: Q9UI09

    1 Blocks protein domain: IPB007763 NADH:ubiquinone oxidoreductase 17.2 kD subunit

    UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09
    Similarity: Belongs to the complex I NDUFA12 subunit family


    NDUFA12 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUAC_HUMAN, Q9UI09
    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 Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954NADH dehydrogenase activity NAS--
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS10830904
    GO:0009055electron carrier activity IEA--
         
    NDUFA12 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFA12:
     Synthetic lethal with Ras 

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NDUFA12 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 disease0.61
    Respiratory electron transport0.81
    Huntington's disease0.47
    Electron Transport Chain0.75
    Alzheimer's disease0.46
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NDUFA12
        Electron Transport Chain

    4        Reactome Pathways for NDUFA12
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5/6         Kegg Pathways  (Kegg details for NDUFA12) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFA12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFA12

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

    5/58 Interacting proteins for NDUFA12 (Q9UI092, 3 ENSP000003307374) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF768Q9H5H42, 3, ENSP000003697774MINT-8263577 I2D: score=2 STRING: ENSP00000369777
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    MDM2Q009873I2D: score=1 
    NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
    CYC1ENSP000003171594STRING: ENSP00000317159
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006979response to oxidative stress IDA12857734
    GO:0007585respiratory gaseous exchange NAS10830904
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    NDUFA12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NDUFA12 (NDUAC)

    8 HMDB Compounds for NDUFA12    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 NDUFA12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about NDUFA12 / NDUAC

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NDUFA12 gene (2 alternative transcripts): 
    NM_001258338.1  NM_018838.4  

    Unigene Cluster for NDUFA12:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
    Hs.506374  [show with all ESTs]
    Unigene Representative Sequence: BM543134
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552205 ENST00000547447 ENST00000550187 ENST00000547157 ENST00000538372
    ENST00000551991 ENST00000327772(uc001tdl.3) ENST00000547986 ENST00000546788


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    Additional mRNA sequence: 

    AF112208.1 AF217092.1 AK222619.1 BC005936.1 BT007220.1 U34343.1 

    7 DOTS entries:

    DT.100818873  DT.100818870  DT.91751706  DT.443618  DT.86854086  DT.95178746  DT.100659636 

    24/199 AceView cDNA sequences (see all 199):

    AA427922 F18912 AF217092 AI369264 BM717058 BE879388 BG941873 NM_018838 
    CB110742 CB109230 CB109322 AA426035 BI085091 AW327926 AA425720 CB109351 
    BQ100807 AA428082 BG179091 AA360182 BM701331 AA573407 CK823111 AA553634 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA12    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5
    SP1:                    -               
    SP2:                                    
    SP3:                    -     -         


    ECgene alternative splicing isoforms for NDUFA12

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDUFA12 expression in normal human tissues (normalized intensities)      NDUFA12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTACTCT
    NDUFA12 Expression
    About this image


    NDUFA12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Eye (Sensory Organs)
             Retina
     
     Lung (Respiratory System)
             Trachea
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   

    See NDUFA12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFA12

    SOURCE GeneReport for Unigene cluster: Hs.506374
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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NDUFA12 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa121 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 85.75(n)1
    88.97(a)1
      10 (48.83 cM)5
    664141  NM_025551.31  NP_079827.21 
     941989555 
    chicken
    (Gallus gallus)
    Aves NDUFA121 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 74.07(n)
    74.31(a)
      417907  NM_001184758.1  NP_001171687.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA126
    Uncharacterized protein
    73(a)
    1 ↔ 1
    5(30996864-31006253)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.162512 Transcribed sequence with weak similarity to protein more 77.61(n)    BX695797.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.144782 Transcribed sequence with weak similarity to protein more 80.86(n)    BI672521.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG32141 CG3214 50.39(n)
    44.88(a)
      33443  NM_001144298.1  NP_001137770.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y94H6A.81 Protein Y94H6A.8 49.61(n)
    41.73(a)
      177056  NM_067846.3  NP_500247.2 


    ENSEMBL Gene Tree for NDUFA12 (if available)
    TreeFam Gene Tree for NDUFA12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFA12 gene

    NDUFA12 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for NDUFA12
    PGOHUM00000248481 PGOHUM00000234819 PGOHUM00000235212 PGOHUM00000235669 PGOHUM00000235867


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/884 SNPs in NDUFA12 are shown (see all 884)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs350630031,2
    C--95206511(+) AGCAA-/CCAAAA 2 -- ds50010--------
    rs2007405781,2
    --95206512(+) GCAAC-/AAAAAA 2 -- ds50010--------
    rs782469661,2
    F--95206513(+) GCAACC/AAAAAA 2 -- ds50012Minor allele frequency- A:0.50NA 4
    rs1503028621,2
    --95206528(+) TGTGAC/TCCTAG 2 -- ds50010--------
    rs49236731,2
    C,F,A,H--95206653(+) AGAGCT/GTCAAT 2 -- ds500121Minor allele frequency- G:0.45NA EA NS WA CSA 1065
    rs1378571181,2
    --95206657(+) CGTCAA/GTAAAA 2 -- ds50010--------
    rs1830725111,2
    --95206699(+) TGTCTC/GTCCAT 2 -- ds50010--------
    rs1435338601,2
    --95206849(+) GCTACA/CCCAAT 2 -- ds50010--------
    rs1471767751,2
    --95206933(+) AGGCAA/CGAAAG 2 -- ds50010--------
    rs1996406251,2
    C--95207028(+) TTGCAC/TGTTTC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NDUFA12 (95290831 - 95397546 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NDUFA12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2746231CNV Deletion23290073
    esv2662032CNV Deletion23128226
    esv1218332CNV Deletion17803354
    esv2676932CNV Deletion23128226
    nsv53404CNV Loss16902084
    nsv7234OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): NDUFA12
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA12
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614530    OMIM disorders: --

    UniProtKB/Swiss-Prot: NDUAC_HUMAN, Q9UI09
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 11 diseases for NDUFA12:    About MalaCards
    orbital cancer    placenta praevia    dysphagia    mitochondrial dna deletion syndromes
    mitochondrial dna-associated leigh syndrome and narp    mitochondrial disorders    hypotonia    huntington's disease
    parkinson's disease    ataxia    alzheimer's disease

    3 diseases from the University of Copenhagen DISEASES database for NDUFA12:
    Placenta praevia     Orbital cancer     Leigh disease

    NDUFA12 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NDUFA12
    Human Genome Epidemiology (HuGE) Navigator: NDUFA12 (1 document)

    Export disorders for NDUFA12 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

    PubMed articles for NDUFA12 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with NDUFA12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients. (PubMed id 10830904)1, 2, 3 Triepels R....van den Heuvel L. (2000)
    2. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. (PubMed id 21617257)1, 2 Ostergaard E.... Nijtmans L. (2011)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. 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. (2004)
    5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
    6. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    7. NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2-kDa subunit. (PubMed id 9827566)1, 3 Skehel J.M....Walker J.E. (1998)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    10. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)

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

      Query String
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    OMIM
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      (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
    Entrez Gene: 55967 HGNC: 23987 AceView: DAP13 Ensembl:ENSG00000184752 euGenes: HUgn55967
    ECgene: NDUFA12 Kegg: 55967 H-InvDB: NDUFA12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDUFA12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDUFA12 gene:
    Search GeneIP for patents involving NDUFA12

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



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