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

RMND1 Gene

protein-coding   GIFtS: 46
GCID: GC06M151725

required for meiotic nuclear division 1 homolog (S. cerevisiae)

(Previous name: chromosome 6 open reading frame 96 )
(Previous symbol: C6orf96)
 Explore 4 diseases affiliated with
RMND1 via our new
 Human Malady Compendium 
Biological research products
for RMND1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Required For Meiotic Nuclear Division 1 Homolog (S. Cerevisiae)1 2     Chromosome 6 Open Reading Frame 961
C6orf961 2 3     COXPD112
RMD11 2     BA351K161
BA351K16.31     Required For Meiotic Nuclear Division Protein 1 Homolog2
FLJ206271     

External Ids:    HGNC: 211761   Entrez Gene: 550052   Ensembl: ENSG000001559067   OMIM: 6149175   UniProtKB: Q9NWS83   

Export aliases for RMND1 gene to outside databases

Previous GC identifers: GC06M151767 GC06M149288


(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 RMND1:
The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155
domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial
translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11.
Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Dec 2012)

UniProtKB/Swiss-Prot: RMND1_HUMAN, Q9NWS8
Function: Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the
mitochondrial ribosome




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RMND1 gene promoter:
         STAT5A   HNF-4alpha2   POU3F2   C/EBPalpha   HNF-4alpha1   CBF-A   CBF-B   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRMND1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RMND1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RMND1


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

Entrez Gene cytogenetic band: 6q25.1   Ensembl cytogenetic band:  6q25.1   HGNC cytogenetic band: 6q25.1

RMND1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RMND1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M151725:  view genomic region     (about GC identifiers)

Start:
151,725,989 bp from pter      End:
151,773,316 bp from pter
Size:
47,328 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: RMND1_HUMAN, Q9NWS8 (See protein sequence)
Recommended Name: Required for meiotic nuclear division protein 1 homolog precursor  
Size: 449 amino acids; 51604 Da
Subunit: May form homopolymer
Subcellular location: Mitochondrion
Secondary accessions: A8K8H4 Q0VDG6 Q5SZ48 Q5SZ83 Q6NSC5 Q96EN7
Alternative splicing: 3 isoforms:  Q9NWS8-1   Q9NWS8-2   Q9NWS8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RMND1: NX_Q9NWS8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NWS8

  • RMND1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258866.1  NP_060379.2  

    ENSEMBL proteins: 
     ENSP00000356272   ENSP00000336683   ENSP00000412708  

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    Uscn Proteins for RMND1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--


    RMND1 for ontologies           About GeneDecksing



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

    RMND1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003734 DUF155

    Graphical View of Domain Structure for InterPro Entry Q9NWS8

    ProtoNet protein and cluster: Q9NWS8

    UniProtKB/Swiss-Prot: RMND1_HUMAN, Q9NWS8
    Similarity: Belongs to the RMD1/sif2 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RMND1_HUMAN, Q9NWS8
    Function: Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the
    mitochondrial ribosome

    miRNA
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RMND1

    1 GenomeRNAi human phenotype for RMND1:
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RMND1

    2 Interacting proteins for RMND1 (Q9NWS83) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF3O433953I2D: score=4 
    NPC1O151183I2D: score=1 
    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:0006412translation IEA--


    RMND1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 RMND1
    Search CenterWatch for drugs/clinical trials and news about RMND1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RMND1 gene (2 alternative transcripts): 
    NM_001271937.1  NM_017909.3  

    Unigene Cluster for RMND1:

    Required for meiotic nuclear division 1 homolog (S. cerevisiae)
    Hs.486835  [show with all ESTs]
    Unigene Representative Sequence: NM_017909
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367303(uc003qoi.2) ENST00000336451(uc011eeq.1) ENST00000444024
    ENST00000491268(uc003qoj.3 uc011eer.1)

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate RMND1:
    hsa-miR-3674 hsa-miR-219-5p hsa-miR-508-3p
    SwitchGear 3'UTR luciferase reporter plasmidRMND1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RMND1 (see all 7)
    OriGene shRNA RFP: RMND1
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RMND1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RMND1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: RMND1 (NM_017909)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RMND1
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    Additional cDNA sequence: 

    AK000634.1 AK026480.1 AK292339.1 BC012081.1 BC106065.1 BC119683.1 

    9 DOTS entries:

    DT.40220373  DT.100778185  DT.97773617  DT.40296102  DT.102826317  DT.113323  DT.91861295  DT.95370000 
    DT.97794294 

    24/60 AceView cDNA sequences (see all 60):

    AI914919 BU195032 CA424724 BC012081 BU188858 BX353344 AA742360 BU193144 
    AA135493 BI762583 BX504594 AA507042 BM793049 BG547724 BG106808 AI358332 
    BG250198 BG178905 CN481205 CB130267 BX370074 AI056385 BI868375 AI970350 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RMND1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                    -                 -                                                               
    SP2:              -     -           -     -                                                               
    SP3:              -     -           -     -                                                               
    SP4:                                      -                                                               
    SP5:              -     -                                                                                 


    ECgene alternative splicing isoforms for RMND1

    (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

    RMND1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGAAGTTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RMND1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RMND1

    SOURCE GeneReport for Unigene cluster: Hs.486835
        SABiosciences Custom PCR Arrays for RMND1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RMND1

    (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 and fungi.

    Orthologs for RMND1 gene from 7/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rmnd11 , 5 required for meiotic nuclear division 1 homolog (S. more1, 5 83.15(n)1
    82.18(a)1
      10 (2.06 cM)5
    660841  NM_025343.51  NP_079619.41 
     44019155 
    chicken
    (Gallus gallus)
    Aves RMND11 required for meiotic nuclear division 1 homolog (S. more 68.24(n)
    63.15(a)
      421636  XM_419675.3  XP_419675.1 
    lizard
    (Anolis carolinensis)
    Reptilia RMND16
    --
    79(a)
    1 ↔ 1
    GL343259.1(1143869-1164332)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.174982 Transcribed sequence with moderate similarity to protein more 78.16(n)    BQ132759.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG116791 CG11679 52.33(n)
    43.65(a)
      32515  NM_132835.2  NP_573063.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1010.21 Protein ZK1010.2 42.99(n)
    31.21(a)
      176717  NM_067293.4  NP_499694.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YDR282C)4
    YDR282C1
    Putative protein of unknown function4
    hypothetical protein1
    44.52(n)1
    26.91(a)1
      4(1024755-1023511)4
    8518761, 4  NP_010568.31  NP_010568.14 


    ENSEMBL Gene Tree for RMND1 (if available)
    TreeFam Gene Tree for RMND1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RMND1 gene

    RMND1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RMND1
    PGOHUM00000247854 PGOHUM00000236644


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1011 NCBI SNPs in RMND1 are shown (see all 1011    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1411984451,2
    --151725574(+) TTCACC/TGTGTA 1 -- ds50010--------
    rs1833159201,2
    --151725599(+) GGTCTC/TGATCT 1 -- ds50010--------
    rs1854726181,2
    --151725665(+) CCACCA/GCGCCC 1 -- ds50010--------
    rs1180695411,2
    C,F,--151725666(+) CACCGC/TGCCCG 1 -- ds50011Minor allele frequency- T:0.07EA 120
    rs750977031,2
    F,--151725786(+) CTGTGA/TCTTTA 1 -- ds50011Minor allele frequency- T:0.08WA 118
    rs725585931,2
    C,--151725831(+) ATGCTAA/-AGTTT 1 -- ds50011Minor allele frequency- -:0.00CSA 2
    rs106397071,2
    C--151725832(+) TGCTAAA/-GTTTT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs607339971,2
    C,--151725888(+) GTAGAT/CACAAA 1 -- ds50012Minor allele frequency- C:0.04WA 120
    rs1454260141,2
    C,--151725993(+) TGAAC-/ATTT  
            
    ATTTA
    1 -- ut310--------
    rs358710511,2
    C--151726009(+) TATTTATTT/-  
            
    TATTG
    1 -- ut311Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for RMND1 (151725989 - 151773316 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RMND1: --
    Human Gene Mutation Database (HGMD): RMND1

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    (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

    RMND1 for disorders           About GeneDecksing

    OMIM gene information: 614917    OMIM disorders: --

    UniProtKB/Swiss-Prot: RMND1_HUMAN, Q9NWS8
  • Defects in RMND1 are the cause of combined oxidative phosphorylation deficiency 11 (COXPD11) [MIM:614922]. A
  • severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial
    respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory
    insufficiency, foot deformities, or seizures

    4 diseases for RMND1:    About MalaCards
    chronic myeloid leukemia    myeloid leukemia    leukemia    malaria

    Human Genome Epidemiology (HuGE) Navigator: RMND1 (2 documents)

    Export disorders for RMND1 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 RMND1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with RMND1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. (PubMed id 23022098)1, 2 Janer A.... Shoubridge E.A. (2012)
    2. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. (PubMed id 23022099)1, 2 Garcia-Diaz B....Quinzii C.M. (2012)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia. (PubMed id 21540461)1 Kim D.H....Lipton J.H. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)

    (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: 55005 HGNC: 21176 AceView: C6orf96 Ensembl:ENSG00000155906 euGenes: HUgn55005
    ECgene: RMND1 H-InvDB: RMND1

    (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 RMND1 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 RMND1 gene:
    Search GeneIP for patents involving RMND1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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