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LAMA3 Gene

protein-coding   GIFtS: 66

GC18P019523
laminin, alpha 3
(Previous names: laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: LAMNA)
Services    

Aliases &
Descriptions
for LAMA3

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
BM600 2
BM600-150kDa 1
E170 2, 3
LAMNA 2, 3
LOCS 2, 5
epiligrin 1
kalinin-165kDa 1
lama3a 2
nicein-150kDa 1
Descriptions
BM600 150kD subunit 2
Epiligrin 170 kDa subunit 2, 3
Nicein subunit alpha 3
epiligrin alpha 3 subunit 2
kalinin 165kD subunit 2
laminin alpha 3 subunit 2
laminin, alpha 3 2
laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600
(150kD), epilegrin) 1, 2
laminin-5 alpha 3 chain 2
nicein 150kD subunit 2
External Ids
HGNC: 64831
Entrez Gene: 39092
UniProtKB: Q167873
Ensembl: ENSG000000537477
Search outside databases for aliases for LAMA3 gene

Previous GC identifers: GC18P021345 GC18P021184 GC18P019521

Summaries
for LAMA3

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

 EntrezGene summary for LAMA3:
Laminins are basement membrane components thought to mediate the attachment, migration and
organization of cells into tissues during embryonic development by interacting with other
extracellular matrix components. The protein encoded by this gene is the alpha-3 subunit of
laminin 5, which is a complex glycoprotein composed of three subunits (alpha, beta, and gamma).
Laminin 5 is thought to be involved in cell adhesion, signal transduction and differentiation of
keratinocytes. Mutations in this gene have been identified as the cause of Herlitz type junctional
epidermolysis bullosa. Alternatively spliced transcript variants encoding different isoforms have
been identified for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
Function: Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in
focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine
phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes

Gene Wiki entry for LAMA3 (Laminin%2C_alpha_3)

Genomic Location
for LAMA3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the LAMA3 gene  

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

LAMA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P019523:     (about GC identifiers)

Start:
 19,523,560 bp from pter
End:
 19,789,028 bp from pter
Size:
 265,469 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000018.8  NT_010966.13  

Proteins
for LAMA3

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787 (See protein sequence)
Recommended Name: Laminin subunit alpha-3 precursor  
Size: 3333 amino acids; 366649 Da
Subunit: Laminin is a complex glycoprotein, consisting of three different polypeptide chains
(alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped
molecule comprising one long and three short arms with globules at each end. Alpha-3 is a subunit
of laminin-5 (epiligrin/kalinin/nicein), and possibly also a component of laminin-6 (K-laminin)
and laminin-7 (KS-laminin)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane.
Note=Major component
Secondary accessions: Q13679 Q13680 Q6VU68 Q76E14 Q96TG0
Alternative splicing: 2 isoforms:  Q16787-2   Q16787-1   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (4 alternative transcripts): 
    NP_000218.2  NP_001121189.1  NP_001121190.1  NP_937762.1  


    ENSEMBL proteins: 
    ENSP00000269217 ENSP00000382432 ENSP00000324532 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Laminin 5 alpha 3)
    Human Recombinant Proteins from Abnova (LAMA3)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005604 basement membrane TAS8586427
    GO:0005606 laminin-1 complex IEA--
    About this table

    Antibodies for LAMA3: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for LAMA3
    R&D Systems Antibodies for LAMA3 (Laminin-5)
    Antibodies from Abcam (Laminin 5 alpha 3), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (LAMA3)
    Novus Biologicals Antibodies for LAMA3

    Assays for LAMA3: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for LAMA3

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro domains/families (see all 10 ):
     IPR018031 Laminin_B
     IPR000034 Laminin_B_type_IV
     IPR008211 Laminin_N
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G


       GeneDecks  LAMA3 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q16787

    ProtoNet protein and cluster: Q16787

    2 Blocks protein families:
    IPB001791 Laminin G
    IPB009254 Laminin I


    UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
    Domain: The alpha-helical domains I and II are thought to interact with other laminin chains to
    form a coiled coil structure
    Domain: Domain G is globular
    Similarity: Contains 15 laminin EGF-like domains
    Similarity: Contains 5 laminin G-like domains
    Similarity: Contains 1 laminin IV type A domain
    Similarity: Contains 1 laminin N-terminal domain

    Gene Function
    for LAMA3

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (LAMA3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (LAMA3)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_000227

                  Applied Biosystems Silencer® siRNAs for LAMA3

                  Sigma-Aldrich siRNA and siRNA Panels for LAMA3  
                         Sigma-Aldrich shRNA Panels and shRNA for LAMA3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000227
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000227
                                     untagged cDNA clones in CMV expression vector (see all 5): L34156 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_198129

    UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
    Function: Binding to cells via a high affinity receptor, laminin is thought to mediate the
    attachment, migration and organization of cells into tissues during embryonic development by
    interacting with other extracellular matrix components
    Function: Laminin-5 is thought to be involved in (1) cell adhesion via integrin alpha-3/beta-1 in
    focal adhesion and integrin alpha-6/beta-4 in hemidesmosomes, (2) signal transduction via tyrosine
    phosphorylation of pp125-FAK and p80, (3) differentiation of keratinocytes
    Induction: Laminin-5 is up-regulated in wound sites of human skin

    Genatlas biochemistry entry for LAMA3:
    laminin,alpha 3 polypeptide,heterotrimerizing with laminin beta 3 and gamma 2 in laminin 5
    (kalinin/nicein),component of cutaneous basement membrane zone

    6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Lama3):

    craniofacialdigestive/alimentarygrowth/sizelethality-postnatalskeleton
    skin/coat/nails

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102 receptor binding IEA--
    GO:0005198 structural molecule activity NAS8586427
    About this table

    Pathways & Interactions
    for LAMA3

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for LAMA3 (Maps provided by GeneGo):
     Integrin-mediated cell-matrix adhesion

       GeneDecks  LAMA3 for the pathways selected above  
    About GeneDecksing

    2 Millipore Pathways for LAMA3
     Cell adhesion ECM remodeling
     Metalloproteases in connective tissue degradation

       GeneDecks  LAMA3 for the pathways selected above  
    About GeneDecksing

    4 Kegg Pathways  (Kegg details for LAMA3):
     hsa04510 Focal adhesion
     hsa04512 ECM-receptor interaction
     hsa05200 Pathways in cancer
     hsa05222 Small cell lung cancer

       GeneDecks  LAMA3 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  LAMA3 


    5/123 Interacting proteins for LAMA3 (ENSP000003245323 Q167872) via UniProtKB, MINT, and/or STRING (see all 123 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC35E1Q96K372MINT-64295
    COL17A1ENSP000003409373STRING (score=.988)
    SDC2ENSP000003070463STRING (score=.98)
    ITGA3ENSP000000077223STRING (score=.974)
    LAMB3ENSP000003483843STRING (score=.972)
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544 epidermis development TAS8586427
    GO:0030155 regulation of cell adhesion IEA--
    GO:0030334 regulation of cell migration IEA--
    GO:0045995 regulation of embryonic development IEA--
    About this table

    Drugs & Compounds
    for LAMA3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for LAMA3
    1 Novoseek chemical compound relationship for LAMA3 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 82.18 3 7573357 (1), 15953081 (1), 7635220 (1)
    About this table


    Transcripts
    for LAMA3

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (LAMA3)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (LAMA3)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_000227

                  Sigma-Aldrich siRNA and siRNA Panels for LAMA3  
                         Sigma-Aldrich shRNA Panels and shRNA for LAMA3  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000227  NM_001127717  NM_001127718  NM_198129  

    REFSEQ mRNAs for LAMA3 gene (4 alternative transcripts): 

    NM_000227.3   NM_001127717.1   NM_001127718.1   NM_198129.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000227  NM_001127717  NM_001127718  NM_198129  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000227
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000227
                                     untagged cDNA clones in CMV expression vector (see all 5): L34156 

    Additional cDNA sequence: 

    AB208853.1 AK096422.1 AY327114.1 AY327115.1 AY327116.1 BC033663.1 BC043618.1 BC093406.1 
    CR621377.1 L34155.1 L34156.1 X84392.1 X84900.1 X85107.1 X85108.1 

    9 DOTS entries:

    DT.92448000  DT.95243961  DT.100754621  DT.92068550  DT.101971561  DT.99933393  DT.100016938  DT.95243939 
    DT.95243955 

    24/165 AceView cDNA sequences (see all 165 ):

    AY327114 BG677741 AU140779 CA392258 BP354564 BI335805 BC043618 BX101940 
    W67580 NM_198129 CA423430 AY327115 BP353642 CA427431 AL708055 L34155 
    AY327116 CR621377 BX114291 AI567045 NM_000227 CA446402 AK024889 AI129128 

    highest scoring ESTs for LAMA3:

    L34155 AA001432 AA143454 AA157885 AA862112 AA888783 AI073851 AI129128 AI273137 AI375787 

    Unigene Cluster for LAMA3:

    Laminin, alpha 3
    Hs.436367  [show with all ESTs]
    Unigene Representative Sequence: NM_198129


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000269217  ENST00000399516  ENST00000313654  

    Expression
    for LAMA3

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    LAMA3 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for LAMA3

    1 / 2 / 3

    10 probe-sets matching LAMA3 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    37909_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 L34155 1.00 1.00 1.00 1

    		234608_at2, 3 U133-B 1 1.00 1.00 -- -- AK024889 0.20 1.00 0.72 1

    		203726_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000227 0.60 1.00 0.82 1

    		234719_at*2, 3 U133-B NULL 0.00 0.00 -- -- AK024889 0.20 1.00 0.72 1

    		1568879_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		1563772_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		234608_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		1560078_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		203726_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		234719_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    GeneDecks  LAMA3 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGTATTTTAT

    SOURCE GeneReport for Unigene cluster: Hs.436367

    Expression variation in blood from EXPOLDB for LAMA3

    UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787
    Tissue specificity: Skin; respiratory, urinary, and digestive epithelia and in other specialized
    tissues with prominent secretory or protective functions. Epithelial basement membrane, and
    epithelial cell tongue that migrates into a wound bed. A differential and focal expression of the
    subunit alpha-3 is observed in the CNS

    Orthologs
    for LAMA3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for LAMA3 gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 LAMA31   -- laminin, alpha 3 85.88(n)
    82.12(a)    		 480173  XM_537297.2  XP_537297.2 
    chimpanzee
    (Pan troglodytes)    		 LAMA31   -- laminin, alpha 3 98.78(n)
    98.59(a)    		 455339  XM_001156417.1  XP_001156417.1 
    cow
    (Bos taurus)    		 LAMA31   -- laminin, alpha 3 85.43(n)
    82.3(a)    		 532965  XM_612197.3  XP_612197.3 
    rat
    (Rattus norvegicus)    		 Lama31   -- laminin, alpha 3 80.19(n)
    77.76(a)    		 307582  XM_226159.4  XP_226159.4 
    mouse
    (Mus musculus)    		 Lama31, 5 18 (3.00 cM)5
    		 laminin, alpha 31, 5 80.8(n)1
    78.13(a)1    		 167741  XM_140451.71  XP_140451.61 
     AJ2935925  AK1387405  (see all 12)
    About this table        Species with no ortholog for LAMA3

    ENSEMBL Gene Tree for LAMA3

    Paralogs
    for LAMA3

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for LAMA3 gene
    LAMA52  LAMA42  

    SNPs/Variants
    for LAMA3

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1165 NCBI SNPs in LAMA3 are shown (see all 1165 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 401)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 18 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs110828641,2
    		A,C,F,H19789129(+) GTCTTC/GTACAG 2 -- ng315Minor allele frequency- G:0.42EU EA WA NS 456
    rs9586311,2
    		A,C,F,H19723991(-) TTCCCA/C/GAAATA 8 F/L F/F mis1 syn117EA NS MN EU WA NA 1394
    --
    rs17887961,2
    		A,C,F19521576(-) tgatcA/Gcctga 1 -- ng511Minor allele frequency- G:0.40NS 40
    rs171872621,2
    		C,F,H19656296(+) TGGAAC/ATGAAG 2 N/T mis113Minor allele frequency- A:0.04NA EU EA WA NS 1090
    --
    rs10511501,2
    		A,C,F19788701(+) TCAATT/CAGGAC 4 -- ut31 ese31Minor allele frequency- C:0.30MN 184
    --
    rs17114501,2
    		A,C,F19522198(+) TTTTGT/CATATA 1 -- ng51 tfbs31Minor allele frequency- C:0.40NS 40
    rs124573231,2
    		C,F,H19678984(+) TCTAGT/CGGTGC 2 A/V mis1 ese313Minor allele frequency- C:0.04EU EA WA NA NS 1090
    rs11542331,2
    		A,C,H19765087(+) GCGGCG/AGCCCA 4 G/S mis1 ese39Minor allele frequency- A:0.00MN EU EA WA 1022
    rs172029611,2
    		C,F,H19678989(+) TGGTGC/ACTGCA 2 T/P mis1 ese316Minor allele frequency- A:0.04NA EU EA WA NS 1440
    rs11542321,2
    		C,F,H19765032(+) AGGAAC/ACTGCA 4 K/N mis1 ese312Minor allele frequency- A:0.18MN NA EU EA WA NS 1078
    About this table

    HapMap Linkage Disequilibrium images for LAMA3 (up to first 250kb)

    Disorders & Mutations
    for LAMA3

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 600805   disorders: 226700  226650  245660  

    UniProtKB/Swiss-Prot: LAMA3_HUMAN, Q16787

  • Defects in LAMA3 are a cause of epidermolysis bullosa junctional Herlitz type (H-JEB)
    [MIM:226700]; also known as junctional epidermolysis bullosa Herlitz-Pearson type. JEB defines a
    group of blistering skin diseases characterized by tissue separation which occurs within the
    dermo-epidermal basement membrane. H-JEB is a severe, infantile and lethal form. Death occurs
    usually within the first six months of life. Occasionally, children survive to teens. H-JEB is
    marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may
    be hemorrhagic
  • Defects in LAMA3 are the cause of laryngoonychocutaneous syndrome (LOCS) [MIM:245660].
    LOCS is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The
    condition is characterized by cutaneous erosions, nail dystrophy and exuberant vascular
    granulation tissue in certain epithelia, especially conjunctiva and larynx

    • 10/14 Novoseek disease relationships for LAMA3 gene (see all 14 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa junctional 96.62 15 9759651 (2), 8530087 (2), 10469327 (1), 12915477 (1) (see all 13)
    lethal junctional epidermolysis bullosa 85.42 1 9027848 (1)
    epidermolysis bullosa 79.66 1 7550237 (1)
    pemphigoid cicatricial 73.69 1 12746470 (1)
    epidermolysis bullosa acquisita 63.91 2 10677099 (1), 12746470 (1)
    skin diseases 52.88 7 8618058 (1), 9759651 (1), 8618020 (1), 8530087 (1) (see all 7)
    pemphigoid bullous 42.27 1 12746470 (1)
    carcinoma squamous cell 6.09 1 11267939 (1)
    necrosis 0.00 1 7635220 (1)
    cancer 0.00 1 14695139 (1)
    About this table

    GeneTests: LAMA3
    Junctional Epidermolysis Bullosa

    Human Gene Mutation Database: LAMA3

    Medical News
    for LAMA3

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for LAMA3

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/131 PubMed articles for LAMA3 gene (see all 131 ):

    Search for LAMA3

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing LAMA3

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 3909 HGNC: 6483 AceView: LAMA3 Ensembl:ENSG00000053747 euGenes: HUgn3909
    ECgene: LAMA3 H-InvDB: LAMA3

    Other Databases showing LAMA3

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing LAMA3

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=LAMA3

    Licensable Technologies
    for LAMA3

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		Licensable Technologies for LAMA3 gene:
     Tufts University:  Laminins and their functions in nervous systems

    Services
    for LAMA3

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for LAMA3:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for LAMA3-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for LAMA3 Antibodies for LAMA3
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for LAMA3 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
     Flow Cytometry Kits   Protease Activity Assays & Reagents  
     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
     Multiplex/Array Assay Kits & Reagents   ELISpot Kits & Development Modules  
     Recombinant & Natural Proteins  

     Recombinant Proteins (LAMA3)
     Antibodies (LAMA3)
     Chimera RNAi (LAMA3)
     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Search for Antibodies & Assays

     Recombinant Proteins
    (Laminin 5 alpha 3)
     Antibodies (Laminin 5 alpha 3)
     Search OriGene for LAMA3
     Search Tocris compounds for LAMA3




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for LAMA3

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

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