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LOR Gene

protein-coding   GIFtS: 49
GCID: GC01P153233

Loricrin

  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)
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Aliases
loricrin1 2
LRN3

External Ids:    HGNC: 66631   Entrez Gene: 40142   Ensembl: ENSG000002037827   OMIM: 1524455   UniProtKB: P234903   

Export aliases for LOR gene to outside databases

Previous GC identifers: GC01P151049 GC01P149015 GC01P150008 GC01P150449 GC01P150448 GC01P150045 GC01P151498 GC01P124595


(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 LOR Gene:
This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally
differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive
symmetric erythrokeratoderma, both inherited skin diseases. (provided by RefSeq, Jul 2008)

GeneCards Summary for LOR Gene:
LOR (loricrin) is a protein-coding gene. Diseases associated with LOR include vohwinkel syndrome with ichthyosis, and skin disease. GO annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot: LORI_HUMAN, P23490
Function: Major keratinocyte cell envelope protein

Gene Wiki entry for LOR (Loricrin) 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:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the LOR gene promoter:
         HOXA9   HOXA9B   USF1   AML1a   Meis-1b   Evi-1   CP2   USF-1   Sox9   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLOR promoter sequence
   Search Chromatin IP Primers for LOR

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


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P153233:  view genomic region     (about GC identifiers)

Start:
153,232,176 bp from pter      End:
153,234,600 bp from pter
Size:
2,425 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, 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., 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: LORI_HUMAN, P23490 (See protein sequence)
Recommended Name: Loricrin  
Size: 312 amino acids; 25761 Da
Secondary accessions: Q5T869 Q5XKF8

Explore the universe of human proteins at neXtProt for LOR: NX_P23490

Explore proteomics data for LOR at MOPED

Post-translational modifications: 

  • Substrate of transglutaminases. Some glutamines and lysines are cross-linked to other loricrin molecules and to
    SPRRs proteins1
  • Contains inter- or intramolecular disulfide-bonds (Probable)1
  • Modification sites at neXtProt

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

    REFSEQ proteins: NP_000418.2  
    ENSEMBL proteins: 
     ENSP00000357731  

    LOR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
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    GenScript Custom Purified and Recombinant Proteins Services for LOR
    Novus Biologicals LOR Protein
    Novus Biologicals LOR Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LOR

    LOR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Custom Antibody Services for LOR
    Novus Biologicals LOR Antibodies
    Abcam antibodies for LOR
    Cloud-Clone Corp. Antibodies for LOR
    ThermoFisher Antibodies for LOR
    LSBio Antibodies in human, mouse, rat for LOR

    LOR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for LOR
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for LOR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for LOR
    Cloud-Clone Corp. CLIAs for LOR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: P23490


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LORI_HUMAN, P23490
    Function: Major keratinocyte cell envelope protein

         Genatlas biochemistry entry for LOR:
    loricrin,26kDa,major protein component of the cornified cell enveloppe in stratum corneum,SPRR family

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IDA10908733
    GO:0005200structural constituent of cytoskeleton TAS2007607
    GO:0005515protein binding IPI7592852
    GO:0030674protein binding, bridging IDA10908733
         
    LOR for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Lor):
     growth/size/body  homeostasis/metabolism  immune system  integument 

    LOR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lortm1Der for LOR

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LOR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LOR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LOR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LOR

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat LOR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LOR (see all 16):
    hsa-let-7d hsa-let-7a-2* hsa-let-7c hsa-let-7g hsa-let-7a hsa-let-7g* hsa-miR-103a-2* hsa-miR-30b*
    SwitchGear 3'UTR luciferase reporter plasmidLOR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LOR
    Predesigned siRNA for gene silencing in human, mouse, rat LOR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LOR

    Clone
    Products:
         
    OriGene clones in human, mouse for LOR (see all 6)
    OriGene ORF clones in mouse, rat for LOR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LOR (NM_000427)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LOR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LOR

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for LOR
    Browse ESI BIO Cell Lines and PureStem Progenitors for LOR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LOR


    (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
    LORI_HUMAN, P23490: Cytoplasm. Nucleus, nucleoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2
    extracellular2
    plasma membrane2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IDA10908733
    GO:0005654nucleoplasm IEA--
    GO:0005737cytoplasm IEA--

    LOR for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including LOR: 
              Notch Signaling Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for LOR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for LOR (P234902, 3 ENSP000003577314) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VIMP086702, 3, ENSP000002242374MINT-63605 I2D: score=3 STRING: ENSP00000224237
    PI3P199573, ENSP000002439244I2D: score=1 STRING: ENSP00000243924
    CSTAP010403, ENSP000002644744I2D: score=1 STRING: ENSP00000264474
    EVPLQ928173, ENSP000003016074I2D: score=1 STRING: ENSP00000301607
    IVLP074763, ENSP000003577534I2D: score=1 STRING: ENSP00000357753
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0018149peptide cross-linking IDA10908733
    GO:0030216keratinocyte differentiation IDA10908733
    GO:0031424keratinization IEA--

    LOR for ontologies           About GeneDecksing



    (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 LOR (LORI)

    Selected Novoseek inferred chemical compound relationships for LOR gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    collodion 72.7 2 11703298 (1), 8097623 (1)
    epsilon-(gamma-glutamyl)lysine 56.7 1 2007607 (1)
    retinoic acid 46.4 11 1378029 (3), 7516397 (3), 17927576 (1), 1362830 (1) (see all 6)
    proline 39.8 4 12366693 (1), 11069449 (1), 10231017 (1), 10462486 (1)
    lipid 17.4 4 9740238 (1), 16600580 (1), 17958842 (1), 15452860 (1)
    hematoxylin 11.5 2 8520058 (1), 15748696 (1)
    serine 6.29 4 8405772 (1), 2007607 (1), 8434728 (1), 17292323 (1)
    vitamin a 0.757 1 8405772 (1)
    cholesterol 0 1 18701433 (1)
    steroid 0 2 9740238 (1), 15452860 (1)



    LOR for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LOR gene: 
    NM_000427.2  

    Unigene Cluster for LOR:

    Loricrin
    Hs.251680  [show with all ESTs]
    Unigene Representative Sequence: BC108290
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000368742(uc001fbm.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat LOR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LOR (see all 16):
    hsa-let-7d hsa-let-7a-2* hsa-let-7c hsa-let-7g hsa-let-7a hsa-let-7g* hsa-miR-103a-2* hsa-miR-30b*
    SwitchGear 3'UTR luciferase reporter plasmidLOR 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for LOR
    Predesigned siRNA for gene silencing in human, mouse, rat LOR
    Clone
    Products:
         
    OriGene clones in human, mouse for LOR (see all 6)
    OriGene ORF clones in mouse, rat for LOR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LOR (NM_000427)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LOR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LOR
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for LOR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LOR
      QuantiTect SYBR Green Assays in human, mouse, rat LOR
      QuantiFast Probe-based Assays in human, mouse, rat LOR

    Additional mRNA sequence: 

    BC034690.1 BC108290.1 CR536555.1 M61120.1 

    2 DOTS entries:

    DT.420755  DT.121348254 

    8 AceView cDNA sequences:

    BC034690 CR536555 BF718530 NM_000427 BF718445 M61120 BF718234 BG675718 

    GeneLoc Exon Structure


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


    LOR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Epithelial Cells
             Granular Keratinocytes Stratified Epidermis
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Granular Keratinocytes Stratified Epidermis
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
    LOR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LOR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.251680
        Pathway & Disease-focused RT2 Profiler PCR Array including LOR: 
              Notch Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for LOR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LOR
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    QuantiFast Probe-based Assays in human, mouse, rat LOR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LOR

    (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 human and mouse.

    Orthologs for LOR gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lor5 loricrin   --   3 (40.14 cM) 92080275 


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

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

    (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 LOR (see all 110)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1918769811,2
    --124593781(+) GAAGAA/CTTTCT 1 -- us2k10--------
    rs1824571091,2
    --124593847(+) GAACAC/GATAGC 1 -- us2k10--------
    rs1857998931,2
    --124593856(+) GCAATA/GGGCCA 1 -- us2k10--------
    rs1178819141,2
    C--124593918(+) TTCCAA/TTGTGG 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1141418221,2
    C--124593973(+) TAATCA/GCGGCC 1 -- us2k10--------
    rs1445809811,2
    --124593974(+) AATCGC/TGGCCT 1 -- us2k10--------
    rs1484611741,2
    C--124594026(+) AGAAAC/TTTGCC 1 -- us2k10--------
    rs1906019991,2
    --124594217(+) TATTAC/TTGGAG 1 -- us2k10--------
    rs1825080871,2
    --124594256(+) ACAAAC/GTTTGA 1 -- us2k10--------
    rs748005991,2
    C,F--124594293(+) GACTTC/TCGGTT 1 -- us2k11Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for LOR (153232176 - 153234600 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for LOR: --
    Human Gene Mutation Database (HGMD): LOR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LOR
    DNA2.0 Custom Variant and Variant Library Synthesis for LOR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 152445   
    OMIM disorders: 604117  
    UniProtKB/Swiss-Prot: LORI_HUMAN, P23490
  • Progressive symmetric erythrokeratodermia (PSEK) [MIM:133200]: Erythrokeratodermas are a group of
    disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with
    features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Vohwinkel syndrome with ichthyosis (VSI) [MIM:604117]: VSI is an ichthyotic variant of Vohwinkel syndrome
    characterized by progressive symmetric erythrokeratoderma or congenital ichthyosiform erythroderma born as a
    collodion baby. Common clinical features include hyperkeratosis of the palms and soles with digital constriction.
    Deafness is not a constant feature. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for LOR (see all 35):    
    About MalaCards
    vohwinkel syndrome with ichthyosis    skin disease    molluscum contagiosum    ainhum
    irritant dermatitis    vohwinkel syndrome    ichthyosis vulgaris    porokeratosis
    olmsted syndrome    erythrokeratodermia variabilis et progressiva    oral submucous fibrosis    epidermolytic hyperkeratosis
    erythrokeratodermia variabilis    palmoplantar keratosis    keratoderma    congenital ichthyosiform erythroderma
    epidermolysis bullosa simplex    atopic dermatitis    keratosis    epidermolysis bullosa

    7 diseases from the University of Copenhagen DISEASES database for LOR:
    Congenital ichthyosiform erythroderma     Keratosis     Atopic dermatitis     Ichthyosis vulgaris
    Psoriasis     Epidermolytic hyperkeratosis     Irritant dermatitis

    LOR for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for LOR gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vohwinkel syndrome 94 10 20236940 (2), 11121146 (1), 17953701 (1), 9690138 (1) (see all 8)
    keratoderma 90.6 57 11121146 (6), 15102081 (5), 10536989 (3), 9800950 (3) (see all 18)
    keratoderma palmoplantar 81.5 7 16403113 (3), 9665400 (1), 9326323 (1), 15708285 (1) (see all 5)
    hyperkeratosis 78.3 2 12615358 (1), 9800950 (1)
    ichthyosis vulgaris 77.1 1 16133457 (1)
    ichthyosiform erythroderma congenital 76 1 11703298 (1)
    parakeratosis 75.7 2 1378029 (1), 1362830 (1)
    ichthyosis 74.8 8 15102081 (2), 20236940 (2), 9326398 (2)
    ichthyosiform erythroderma nonbullous congenital 73.9 1 12220269 (1)
    skin diseases 67.4 14 9690138 (2), 1362830 (2), 10536989 (1), 20236940 (1) (see all 10)

    Genetic Association Database (GAD): LOR
    Human Genome Epidemiology (HuGE) Navigator: LOR (3 documents)

    Export disorders for LOR 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 LOR gene, integrated from 10 sources (see all 231):
    (articles sorted by number of sources associating them with LOR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. (PubMed id 2007607)1, 2, 3, 9 Hohl D.... Steinert P.M. (J. Biol. Chem. 1991)
    2. The human loricrin gene. (PubMed id 1355480)1, 2, 3, 9 Yoneda K....Steinert P.M. (J. Biol. Chem. 1992)
    3. Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. (PubMed id 12615358)1, 2, 9 Ishida-Yamamoto A. (J. Dermatol. Sci. 2003)
    4. Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin. (PubMed id 10066784)1, 2, 9 Candi E....Steinert P.M. (J. Biol. Chem. 1999)
    5. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. (PubMed id 9326323)1, 2, 9 Ishida-Yamamoto A....Christiano A.M. (Am. J. Hum. Genet. 1997)
    6. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    7. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PubMed id 19601998)1, 4 Stemmler S....Hoffjan S. (Int. J. Immunogenet. 2009)
    8. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. (PubMed id 12072018)1, 2 O'Driscoll J....Christiano A.M. (Clin. Exp. Dermatol. 2002)
    9. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). (PubMed id 15102081)1, 9 Schmuth M....Elias P.M. (J. Invest. Dermatol. 2004)
    10. Protein kinase C delta and eta differently regulate the expression of loricrin and Jun family proteins in human keratinocytes. (PubMed id 20184865)1, 9 Kamioka N....Ohba M. (Biochem. Biophys. Res. Commun. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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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: 4014 HGNC: 6663 AceView: LOR Ensembl:ENSG00000203782 euGenes: HUgn4014
    ECgene: LOR H-InvDB: LOR

    (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 LOR Pharmacogenomics, SNPs, Pathways

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