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TMEM126A Gene

protein-coding   GIFtS: 54
GCID: GC11P085359

Transmembrane Protein 126A

  See TMEM126A-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
Transmembrane Protein 126A1 2
OPA72 5

External Ids:    HGNC: 253821   Entrez Gene: 842332   Ensembl: ENSG000001712027   OMIM: 6129885   UniProtKB: Q9H0613   

Export aliases for TMEM126A gene to outside databases

Previous GC identifers: GC11P085037 GC11P081656


(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 TMEM126A Gene:
The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are
a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for
this gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for TMEM126A Gene:
TMEM126A (transmembrane protein 126A) is a protein-coding gene. Diseases associated with TMEM126A include optic atrophy type 7, and staphyloenterotoxemia. An important paralog of this gene is TMEM126B.

Gene Wiki entry for TMEM126A 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_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM126A gene promoter:
         HFH-3   USF1   Spz1   HTF   FOXD3   USF-1:USF-2   Evi-1   FOXI1   USF-1   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM126A promoter sequence
   Search Chromatin IP Primers for TMEM126A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM126A


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

Entrez Gene cytogenetic band: 11q14.1   Ensembl cytogenetic band:  11q14.1   HGNC cytogenetic band: 11q14.1

TMEM126A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM126A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P085359:  view genomic region     (about GC identifiers)

Start:
85,358,963 bp from pter      End:
85,367,597 bp from pter
Size:
8,635 bases      Orientation:
plus 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: T126A_HUMAN, Q9H061 (See protein sequence)
Recommended Name: Transmembrane protein 126A  
Size: 195 amino acids; 21527 Da
Secondary accessions: B2R570 E9PI16
Alternative splicing: 2 isoforms:  Q9H061-1   Q9H061-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for TMEM126A: NX_Q9H061

Explore proteomics data for TMEM126A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys183, Lys192
  • Modification sites at PhosphoSitePlus

  • See TMEM126A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001231664.1  NP_115649.1  

    ENSEMBL proteins: 
     ENSP00000431993   ENSP00000436590   ENSP00000436723   ENSP00000306887   ENSP00000434357  

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    Search eBioscience for ELISAs for TMEM126A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009801 DUF1370_TMEM126

    Graphical View of Domain Structure for InterPro Entry Q9H061

    ProtoNet protein and cluster: Q9H061

    UniProtKB/Swiss-Prot: T126A_HUMAN, Q9H061
    Similarity: Belongs to the TMEM126 family


    Find genes that share domains with TMEM126A           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with TMEM126A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM126A:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM126A
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    miRNA
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    miRTarBase miRNAs that target TMEM126A:
    hsa-mir-16-5p (MIRT031436)

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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
    T126A_HUMAN, Q9H061: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMEM126A           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 TMEM126A About    
    See pathways by source

    SuperPathContained pathways About
    1Validated targets of C-MYC transcriptional repression
    Validated targets of C-MYC transcriptional repression


    1 BioSystems Pathway for TMEM126A
        Validated targets of C-MYC transcriptional repression


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM126A
    Interactions:

        Search GeneGlobe Interaction Network for TMEM126A

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for TMEM126A (ENSP000003068874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAXENSP000003514904STRING: ENSP00000351490
    MYCENSP000003672074STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021554optic nerve development IMP19327736

    Find genes that share ontologies with TMEM126A           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 TMEM126A (T126A)



    (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 TMEM126A gene (2 alternative transcripts): 
    NM_001244735.1  NM_032273.3  

    Unigene Cluster for TMEM126A:

    Transmembrane protein 126A
    Hs.533725  [show with all ESTs]
    Unigene Representative Sequence: BM546667
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525353 ENST00000528105(uc021qoi.1) ENST00000531366 ENST00000304511(uc001par.3)
    ENST00000532180 ENST00000528531
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TMEM126A
      QuantiFast Probe-based Assays in human, mouse, rat TMEM126A

    Additional mRNA sequence: 

    AK312081.1 AL136941.1 BC007875.2 

    9 DOTS entries:

    DT.418766  DT.100754956  DT.120751235  DT.91682719  DT.100754957  DT.86852507  DT.91750274  DT.40118721 
    DT.86843579 

    Selected AceView cDNA sequences (see all 156):

    AA609966 CD366181 AA620327 AI077896 BM715541 BM701128 BQ943238 CB242878 
    AA854351 N89690 CK904782 AI127750 AA757035 AA460335 AW024828 AA629883 
    AI758943 AA629835 AA460398 BF435729 AI567067 AV661515 AA461175 AI076382 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM126A    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b
    SP1:                    -                                       
    SP2:                    -           -                           
    SP3:                                -                           
    SP4:              -     -                                       


    ECgene alternative splicing isoforms for TMEM126A

    (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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    TMEM126A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TMEM126A Expression
    About this image

    TMEM126A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM126A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.533725

    UniProtKB/Swiss-Prot: T126A_HUMAN, Q9H061
    Tissue specificity: Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found
    in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TMEM126A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem126a1 , 5 transmembrane protein 126A1, 5 79.49(n)1
    71.28(a)1
      7 (50.59 cM)5
    662711  NM_025460.21  NP_079736.11 
     904507005 
    chicken
    (Gallus gallus)
    Aves TMEM126A1 transmembrane protein 126A 60.26(n)
    46.02(a)
      426392  XM_003640595.2  XP_003640643.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    42(a)
    1 → many
    3(200672168-200678058)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157562 Xenopus laevis transcribed sequence with weak similarity more 68.79(n)    BJ627452.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmem126a1 transmembrane protein 126A 54.8(n)
    44.07(a)
      393771  NM_200798.1  NP_957092.1 


    ENSEMBL Gene Tree for TMEM126A (if available)
    TreeFam Gene Tree for TMEM126A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM126A gene
    TMEM126B2  
    1 SIMAP similar gene for TMEM126A using alignment to 3 protein entries:     T126A_HUMAN (see all proteins):
    TMEM126B

    Find genes that share paralogs with TMEM126A           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for TMEM126A
    PGOHUM00000247145 PGOHUM00000235193 PGOHUM00000258328 PGOHUM00000258329 PGOHUM00000249228


    (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 TMEM126A (see all 240)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214345081,2
    Cpathogenic185232660(+) TTTTTC/TGACGC 3 R * stg1 ut510--------
    rs1472118241,2
    --85224462(+) CCACA-/CTCTGGC 2 -- us2k10--------
    rs2004409401,2
    C--85224471(+) GGCTC-/TTTTTT 2 -- us2k10--------
    rs71229871,2
    C,F,H--85224553(+) AATTAG/AGAAAC 2 -- us2k16Minor allele frequency- A:0.14NS EA WA 538
    rs6864261,2
    C,H--85224590(+) GAAATT/CCCATT 2 -- us2k117Minor allele frequency- C:0.00NS EA NA WA CSA 790
    rs1181095481,2
    F--85224797(+) TTTACT/CAAAAA 2 -- us2k11Minor allele frequency- C:0.02EA 120
    rs1866918131,2
    --85224805(+) AAAATA/TAGCCG 2 -- us2k10--------
    rs1448847771,2
    C--85224857(+) GGGAGA/GCCGAG 2 -- us2k10--------
    rs1923641351,2
    --85224864(+) CGAGGA/CGGGTG 2 -- us2k10--------
    rs1847867761,2
    --85224874(+) GGATCA/CCGAGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM126A (85358963 - 85367597 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TMEM126A:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1246n71CNV Loss21882294
    essv22464CNV CNV17122850
    esv678CNV CNV17122850
    essv7704CNV CNV17122850

    Human Gene Mutation Database (HGMD): TMEM126A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM126A
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM126A

    (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: 612988   
    OMIM disorders: 612989  
    UniProtKB/Swiss-Prot: T126A_HUMAN, Q9H061
  • Optic atrophy 7 (OPA7) [MIM:612989]: A hereditary condition that features progressive visual loss in
    association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers
    which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7
    is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual
    acuity, optic disk pallor, and central scotoma. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for TMEM126A:    
    About MalaCards
    optic atrophy type 7    staphyloenterotoxemia    optic atrophy    auditory neuropathy

    2 diseases from the University of Copenhagen DISEASES database for TMEM126A:
    Optic atrophy     Staphyloenterotoxemia

    Find genes that share disorders with TMEM126A           About GenesLikeMe

    Genetic Association Database (GAD): TMEM126A
    Human Genome Epidemiology (HuGE) Navigator: TMEM126A (1 document)

    Export disorders for TMEM126A 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 TMEM126A gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with TMEM126A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. (PubMed id 23500070)1, 2 Hanein S.... Rozet J.M. (Biochim. Biophys. Acta 2013)
    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. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal- recessive nonsyndromic optic atrophy. (PubMed id 19327736)1, 2 Hanein S.... Rozet J.M. (Am. J. Hum. Genet. 2009)
    5. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PubMed id 19570815)1, 4 Estrada K....Kayser M. (Hum. Mol. Genet. 2009)
    6. 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)
    7. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. (PubMed id 20405026)1, 9 Meyer E....Maher E.R. (Mol. Vis. 2010)
    8. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    10. TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. (PubMed id 22815638)1 DAcsir J....Cordonnier M. (Mol. Vis. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84233 HGNC: 25382 AceView: DKFZp586C1924 Ensembl:ENSG00000171202 euGenes: HUgn84233
    ECgene: TMEM126A H-InvDB: TMEM126A

    (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 TMEM126A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for TMEM126A gene:
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