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

MMS22L Gene

protein-coding   GIFtS: 43
GCID: GC06M097590

MMS22-like, DNA repair protein

(Previous name: chromosome 6 open reading frame 167 )
(Previous symbol: C6orf167)
 Explore 1 disease affiliated with
MMS22L via our new
 Human Malady Compendium 
Biological research products
for MMS22L
    

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

Aliases
MMS22-Like, DNA Repair Protein1 2
C6orf1671 2 3
DJ39B17.21
Chromosome 6 Open Reading Frame 1671
Protein MMS22-Like2
Methyl Methanesulfonate-Sensitivity Protein 22-Like3

External Ids:    HGNC: 214751   Entrez Gene: 2537142   Ensembl: ENSG000001462637   UniProtKB: Q6ZRQ53   

Export aliases for MMS22L gene to outside databases


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

UniProtKB/Swiss-Prot: MMS22_HUMAN, Q6ZRQ5
Function: Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of
stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA
replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks.
It may act by mediating the assembly of RAD51 filaments on ssDNA

Gene Wiki entry for MMS22L


(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:
   Search SABiosciences Regulatory transcription factor binding sites for MMS22L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MMS22L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MMS22L


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

Entrez Gene cytogenetic band: 6q16.1   Ensembl cytogenetic band:  6q16.1   HGNC cytogenetic band: 6q16.3

MMS22L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMS22L gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M097590:  view genomic region     (about GC identifiers)

Start:
97,590,037 bp from pter      End:
97,731,093 bp from pter
Size:
141,057 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: MMS22_HUMAN, Q6ZRQ5 (See protein sequence)
Recommended Name: Protein MMS22-like  
Size: 1243 amino acids; 142321 Da
Subunit: Component of the MMS22L-TONSL complex, a complex at least composed of MMS22L and TONSL/NFKBIL2
Subcellular location: Nucleus. Note=Localizes to DNA damage sites, accumulates at stressed replication forks
Sequence caution: Sequence=CAI16668.1; Type=Erroneous gene model prediction; Sequence=CAI20426.1; Type=Erroneous gene
model prediction;
Secondary accessions: D6R9Y8 D6RBQ4 E1P529 Q5THT2 Q68CQ6 Q68D32

Explore the universe of human proteins at neXtProt for MMS22L: NX_Q6ZRQ5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZRQ5

  • MMS22L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_940870.2  
    ENSEMBL proteins: 
     ENSP00000275053   ENSP00000358254   ENSP00000422627   ENSP00000427288   ENSP00000421225  
     ENSP00000422045  

    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MMS22L

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035101colocalizes with FACT complex IDA--
    GO:0042555colocalizes with MCM complex IDA--
    GO:0043596nuclear replication fork IDA--


    MMS22L for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MMS22L


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

    ProtoNet protein and cluster: Q6ZRQ5

    UniProtKB/Swiss-Prot: MMS22_HUMAN, Q6ZRQ5
    Similarity: Belongs to the MMS22 family. MMS22L subfamily


    (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: MMS22_HUMAN, Q6ZRQ5
    Function: Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of
    stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA
    replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks.
    It may act by mediating the assembly of RAD51 filaments on ssDNA

    miRNA
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    miRTarBase miRNAs that target MMS22L:
    hsa-let-7b (MIRT005233)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MMS22L
    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate MMS22L (see all 22):
    hsa-miR-142-5p hsa-miR-549 hsa-miR-4328 hsa-miR-429 hsa-miR-500a hsa-miR-23b* hsa-miR-29a* hsa-miR-200b
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MMS22L (see all 7)
    OriGene siRNA: MMS22L
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMS22L

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    MMS22L for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for MMS22L:
     Cell division defect  Increased G2M DNA content 


    (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 MMS22L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/28 Interacting proteins for MMS22L (Q6ZRQ51, 2, 3 ENSP000002750534) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SSRP1Q089452, 3, ENSP000002784124MINT-8089790 I2D: score=1 STRING: ENSP00000278412
    TONSLQ96HA72, 3, ENSP000003862394MINT-8089662 MINT-8089673 MINT-8089726 MINT-8089667 MINT-8089790 I2D: score=2 STRING: ENSP00000386239
    ASF1BQ9NVP21, 2, 3, ENSP000002633824EBI-718662,EBI-1055650 MINT-8089726 MINT-8089790 I2D: score=2 STRING: ENSP00000263382
    MCM2P497362, 3, ENSP000002650564MINT-8089673 MINT-8089790 I2D: score=1 STRING: ENSP00000265056
    MCM4P339912, 3, ENSP000002621054MINT-8089790 I2D: score=1 STRING: ENSP00000262105
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP--
    GO:0031297replication fork processing IMP--


    MMS22L 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 MMS22L
    Search CenterWatch for drugs/clinical trials and news about MMS22L / MMS22 

    (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 MMS22L gene: 
    NM_198468.2  

    Unigene Cluster for MMS22L:

    MMS22-like, DNA repair protein
    Hs.444292  [show with all ESTs]
    Unigene Representative Sequence: NM_198468
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000275053(uc011eaf.2 uc003ppb.3) ENST00000369251 ENST00000514790
    ENST00000509383(uc010kcn.1) ENST00000510018 ENST00000482634 ENST00000508976(uc003ppc.3)
    ENST00000511335 ENST00000506256 ENST00000484170 ENST00000508820 ENST00000496119


    miRNA
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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate MMS22L (see all 22):
    hsa-miR-142-5p hsa-miR-549 hsa-miR-4328 hsa-miR-429 hsa-miR-500a hsa-miR-23b* hsa-miR-29a* hsa-miR-200b
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    Additional cDNA sequence: 

    AK128060.1 BC110860.1 BC142948.1 BX538214.1 CR749603.1 CR749822.1 

    10 DOTS entries:

    DT.99937339  DT.121334382  DT.40128770  DT.121334384  DT.91815896  DT.206471  DT.40203160  DT.91683094 
    DT.75154045  DT.121334360 

    24/64 AceView cDNA sequences (see all 64):

    AA669669 BE302127 CR749822 AA905574 AI590578 CA429386 CB122571 BX108098 
    AI656894 BX280669 BU632144 BE018528 CR603418 BX101433 BF445436 CR601989 
    BX422070 BG204060 BG504187 AA598586 AA917493 AW295731 AA719037 BX390858 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for MMS22L (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^
    SP1:                                                                                                              -                                             
    SP2:                                -                                                                                                                           
    SP3:                          -     -                 -                                                                                                         
    SP4:                          -     -                       -     -     -     -     -                                                                           
    SP5:                          -     -                                                                                                                           

    ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for MMS22L

    (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

    MMS22L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTAAAAGGT

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

    About this image
    See MMS22L Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.444292
        SABiosciences Custom PCR Arrays for MMS22L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMS22L

    (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 MMS22L gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mms22l1 , 5 MMS22-like, DNA repair protein1, 5 83.63(n)1
    81.07(a)1
      4 (10.36 cM)5
    2123771  NM_199467.21  NP_955761.21 
     244964515 
    chicken
    (Gallus gallus)
    Aves MMS22L1 MMS22-like, DNA repair protein 68.9(n)
    62.15(a)
      421799  XM_419826.3  XP_419826.3 
    lizard
    (Anolis carolinensis)
    Reptilia MMS22L6
    --
    59(a)
    1 ↔ 1
    1(173346686-173445781)
    zebrafish
    (Danio rerio)
    Actinopterygii mms22l1 MMS22-like, DNA repair protein 54.88(n)
    48.67(a)
      563411  NM_001130601.1  NP_001124073.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG148036
    --
    19(a)
    1 ↔ 1
    X(1762821-1766384)


    ENSEMBL Gene Tree for MMS22L (if available)
    TreeFam Gene Tree for MMS22L (if available) 

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

    (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

    10/2189 NCBI SNPs in MMS22L are shown (see all 2189    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs763973301,2
    F,--97589588(+) TTCTAT/CAGGAA 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs1857451641,2
    --97589824(+) CTTCAA/TATTTT 1 -- ds50010--------
    rs1151909901,2
    F,--97589945(+) AAATTA/GTTACT 1 -- ds50011Minor allele frequency- G:0.04WA 118
    rs1892934601,2
    --97590096(+) ACTCAC/TAAATA 1 -- ut310--------
    rs783226891,2
    F,--97590163(+) TGAATT/AGGATA 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1809744791,2
    --97590193(+) TTTTAA/GTAAGT 1 -- ut310--------
    rs1417989961,2
    --97590233(+) ATTTAC/TAATGC 1 -- ut310--------
    rs797732761,2
    --97590240(+) ATGCAA/GGTTAT 1 -- ut310--------
    rs1386077891,2
    --97590308(+) CCCAAA/TCCAAC 1 -- ut310--------
    rs12061771,2
    C,F,A,H,--97590623(-) AAATTG/ATATGT 1 -- ut3114Minor allele frequency- A:0.48NS EA NA WA CSA 786

    HapMap Linkage Disequilibrium report for MMS22L (97590037 - 97731093 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MMS22L: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MMS22L
    DNA2.0 Custom Variant and Variant Library Synthesis for MMS22L

    (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

    MMS22L for disorders           About GeneDecksing

    1 disease for MMS22L:    About MalaCards
    eaf


    Export disorders for MMS22L 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 MMS22L gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with MMS22L)
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    1. Identification of the MMS22L-TONSL complex that promo tes homologous recombination. (PubMed id 21055984)1, 2, 3 Duro E....Rouse J. (2010)
    2. The MMS22L-TONSL complex mediates recovery from repli cation stress and homologous recombination. (PubMed id 21055983)1, 2, 3 O'Donnell L....Durocher D. (2010)
    3. A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability. (PubMed id 21055985)1, 2 O'Connell B.C.... Harper J.W. (2010)
    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. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 253714 HGNC: 21475 AceView: C6orf167 Ensembl:ENSG00000146263 euGenes: HUgn253714
    ECgene: MMS22L H-InvDB: MMS22L

    (According to HUGE)
    About This Section
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    (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 MMS22L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MMS22L gene:
    Search GeneIP for patents involving MMS22L

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