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

TMEM126A Gene

protein-coding   GIFtS: 54
GCID: GC11P085359

Transmembrane Protein 126A

  See 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)
About This Section

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

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. GO annotations related to this gene include molecular_function. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TMEM126A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: T126A_HUMAN, Q9H061 (See protein sequence)
Recommended Name: Transmembrane protein 126A  
Size: 195 amino acids; 21527 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H061

  • TMEM126A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TMEM126A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001231664.1  NP_115649.1  

    ENSEMBL proteins: 
     ENSP00000431993   ENSP00000436590   ENSP00000436723   ENSP00000306887   ENSP00000434357  

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    Novus Biologicals TMEM126A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for TMEM126A 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    TMEM126A for ontologies           About GeneDecksing



    TMEM126A Antibody Products: 
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    Cloud-Clone Corp. CLIAs for TMEM126A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    TMEM126A 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    TMEM126A for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TMEM126A 
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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 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


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 (GO ID links to tree view):    About this table

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

    TMEM126A 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 TMEM126A (T126A)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM126A
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    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 

    24/156 AceView cDNA sequences (see all 156):

    N89690 BI223336 AW024484 CB242878 AI758943 AA448793 AW009144 BQ013145 
    AA629896 AI219583 AA778103 AA854351 T87078 AI077896 AA460398 CF128240 
    BM715541 BU753450 BF475705 CK904782 BM701128 AI567067 AA460335 CD366181 

    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™, 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

    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


    See TMEM126A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM126A

    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TMEM126A gene from 5/12 species (see all 12)    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 60.45(n)
    46.59(a)
      426392  XM_003640595.1  XP_003640643.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    41(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)
    About This Section
    Paralogs for TMEM126A gene
    TMEM126B2  
    1 SIMAP similar gene for TMEM126A using alignment to 3 protein entries:     T126A_HUMAN (see all proteins):
    TMEM126B

    TMEM126A for paralogs           About GeneDecksing


    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) 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

    10/240 SNPs in TMEM126A are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 8 diseases for TMEM126A:    About MalaCards
    optic atrophy type 7    staphyloenterotoxemia    scotoma    optic atrophy
    auditory neuropathy    axonal neuropathy    neuropathy    retinitis

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

    TMEM126A for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for TMEM126A gene, integrated from 9 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. (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. (2013)
    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. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal- recessive nonsyndromic optic atrophy. (PubMed id 19327736)1, 2 Hanein S.... Rozet J.M. (2009)
    5. A genome-wide association study of northwestern Europ eans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PubMed id 19570815)1, 4 Estrada K....Kayser M. (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. (2004)
    7. Nonsense mutation in TMEM126A causing autosomal reces sive optic atrophy and auditory neuropathy. (PubMed id 20405026)1, 9 Meyer E....Maher E.R. (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. (2012)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. (PubMed id 22815638)1 Desir J....Cordonnier M. (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)
    About This Section
    Entrez Gene: 84233 HGNC: 25382 AceView: DKFZp586C1924 Ensembl:ENSG00000171202 euGenes: HUgn84233
    ECgene: TMEM126A H-InvDB: TMEM126A

    (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 TMEM126A 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 TMEM126A gene:
    Search GeneIP for patents involving TMEM126A

    GeneCards and IP:
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