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ACSL4 Gene

protein-coding   GIFtS: 69
GCID: GC0XM108872

Acyl-CoA Synthetase Long-Chain Family Member 4

(Previous names: fatty-acid-Coenzyme A ligase, long-chain 4, mental retardation,...)
(Previous symbols: FACL4, MRX63, MRX68)
  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
Acyl-CoA Synthetase Long-Chain Family Member 41 2     LACS 42 3
FACL41 2 3 5     EC 6.2.1.33 8
MRX631 2 5      Long-Chain Fatty-Acid-Coenzyme A Ligase 41
ACS42 3 5     Mental Retardation, X-Linked 631
MRX681 2     Mental Retardation, X-Linked 681
Fatty-Acid-Coenzyme A Ligase, Long-Chain 41 2     Acyl-CoA Synthetase 42
Lignoceroyl-CoA Synthase1 2     Long-Chain Fatty-Acid-Coenzyme A Ligase 42
Long-Chain Acyl-CoA Synthetase 42 3     Long-Chain-Fatty-Acid--CoA Ligase 42
LACS42 3     

External Ids:    HGNC: 35711   Entrez Gene: 21822   Ensembl: ENSG000000683667   OMIM: 3001575   UniProtKB: O604883   

Export aliases for ACSL4 gene to outside databases

Previous GC identifers: GC0XM107649 GC0XM108690 GC0XM108771 GC0XM108884 GC0XM098507


(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 ACSL4 Gene:
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although
differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this
family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid
biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The
absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this
gene generates 2 transcript variants. (provided by RefSeq, Jul 2008)

GeneCards Summary for ACSL4 Gene:
ACSL4 (acyl-CoA synthetase long-chain family member 4) is a protein-coding gene. Diseases associated with ACSL4 include alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis, and alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis. GO annotations related to this gene include long-chain fatty acid-CoA ligase activity and arachidonate-CoA ligase activity. An important paralog of this gene is ACSL3.

UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
Function: Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via
beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates

Gene Wiki entry for ACSL4 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_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACSL4 gene promoter:
         Egr-3   SRF   USF1   SRF (504 AA)   AP-2gamma   LCR-F1   USF-1   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACSL4 promoter sequence
   Search Chromatin IP Primers for ACSL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACSL4


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

Entrez Gene cytogenetic band: Xq22.3-q23   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq22.3-q23

ACSL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSL4 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM108872:  view genomic region     (about GC identifiers)

Start:
108,867,473 bp from pter      End:
108,976,632 bp from pter
Size:
109,160 bases      Orientation:
minus 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: ACSL4_HUMAN, O60488 (See protein sequence)
Recommended Name: Long-chain-fatty-acid--CoA ligase 4  
Size: 711 amino acids; 79188 Da
Cofactor: Magnesium (By similarity)
Secondary accessions: D3DUY2 O60848 O60849
Alternative splicing: 2 isoforms:  O60488-1   O60488-2   

Explore the universe of human proteins at neXtProt for ACSL4: NX_O60488

Explore proteomics data for ACSL4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys113, Lys388, Lys397, Lys401, Lys500, Lys621, Lys670, Lys702
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACSL4 (O60488) (see all 9)
     TGRVGAPL  PLIDNICA  GCRIGYSSP  QPNGKVFKK 


    See ACSL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004449.1  NP_075266.1  

    ENSEMBL proteins: 
     ENSP00000419171   ENSP00000262835   ENSP00000423539   ENSP00000424808   ENSP00000425408  
     ENSP00000425378   ENSP00000421425   ENSP00000423077   ENSP00000339787  
    Reactome Protein details: O60488

    ACSL4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ACSL4
    OriGene Protein Over-expression Lysate for ACSL4
    OriGene MassSpec for ACSL4
    OriGene Custom Protein Services for ACSL4
    GenScript Custom Purified and Recombinant Proteins Services for ACSL4
    Novus Biologicals ACSL4 Proteins
    Novus Biologicals ACSL4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACSL4

    ACSL4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ACSL4
    OriGene Custom Antibody Services for ACSL4
    Novus Biologicals ACSL4 Antibodies
    Abcam antibodies for ACSL4
    Cloud-Clone Corp. Antibodies for ACSL4
    ThermoFisher Antibody for ACSL4
    LSBio Antibodies in human, mouse, rat for ACSL4

    ACSL4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACSL4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ACSL4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACSL4
    Cloud-Clone Corp. CLIAs for ACSL4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ACS: Acyl-CoA synthetase family

    2 InterPro protein domains:
     IPR020845 AMP-binding_CS
     IPR000873 AMP-dep_Synth/Lig

    Graphical View of Domain Structure for InterPro Entry O60488

    ProtoNet protein and cluster: O60488

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    ACSL4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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: ACSL4_HUMAN, O60488
    Function: Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via
    beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates
    Catalytic activity: ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA

         Enzyme Number (IUBMB): EC 6.2.1.31 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004467long-chain fatty acid-CoA ligase activity IDA10669417
    GO:0005524ATP binding IEA--
    GO:0031957very long-chain fatty acid-CoA ligase activity IMP11889465
    GO:0047676arachidonate-CoA ligase activity IDA--
         
    ACSL4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ACSL4:
     Metaphase cells  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Acsl4):
     cardiovascular system  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  mortality/aging  normal  reproductive system 

    ACSL4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Acsl4tm1Tty for ACSL4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACSL4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACSL4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACSL4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACSL4

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACSL4:
    hsa-mir-378a-3p (MIRT043925), hsa-mir-30a-5p (MIRT028658), hsa-mir-34a-5p (MIRT025215), hsa-mir-375 (MIRT020060)

    Block miRNA regulation of human, mouse, rat ACSL4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACSL4 (see all 88):
    hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-3653 hsa-miR-519a hsa-miR-93 hsa-miR-3613-3p hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidACSL4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACSL4
    Predesigned siRNA for gene silencing in human, mouse, rat ACSL4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACSL4

    Clone
    Products:
         
    OriGene clones in human, mouse for ACSL4 (see all 12)
    OriGene ORF clones in mouse, rat for ACSL4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACSL4 (NM_022977)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSL4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSL4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACSL4
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACSL4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSL4


    (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
    ACSL4_HUMAN, O60488: Mitochondrion outer membrane; Single-pass type III membrane protein (By similarity).
    Peroxisome membrane; Single-pass type III membrane protein (By similarity). Microsome membrane; Single-pass type
    III membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type III membrane protein (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    peroxisome5
    cytosol1
    endosome1
    extracellular1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11889465
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005777peroxisome ----
    GO:0005778peroxisomal membrane IEA--

    ACSL4 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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    SuperPaths for ACSL4 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Triglyceride Biosynthesis
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.00
    Synthesis of very long-chain fatty acyl-CoAs0.00
    3Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    4Mitochondrial LC-Fatty Acid Beta-Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    Fatty Acid Beta Oxidation0.35
    5Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ACSL4
        Fatty Acid Beta Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation
    Fatty Acid Biosynthesis

    1 Reactome Pathway for ACSL4
        Synthesis of very long-chain fatty acyl-CoAs


    Selected Kegg Pathways  (Kegg details for ACSL4) (see all 6):
        Fatty acid degradation
    Metabolic pathways
    Fatty acid metabolism
    PPAR signaling pathway
    Peroxisome


    ACSL4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACSL4 (see all 6): 
              Fatty Acid Metabolism in human mouse rat
              Insulin Resistance in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ACSL4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACSL4 (O604882, 3 ENSP000003397874) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3MINT-3304385 I2D: score=1 
    SPG20Q8N0X73, ENSP000003473144I2D: score=2 STRING: ENSP00000347314
    ENSG00000258947Q135093I2D: score=1 
    NMT1P304193, ENSP000002589604I2D: score=1 STRING: ENSP00000258960
    SCDO007673, ENSP000003593804I2D: score=1 STRING: ENSP00000359380
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001676long-chain fatty acid metabolic process IDA10669417
    GO:0006629lipid metabolic process IDA9598324
    GO:0006641triglyceride metabolic process ----
    GO:0007584response to nutrient IEA--
    GO:0008152metabolic process ----

    ACSL4 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 ACSL4

    Selected HMDB Compounds for ACSL4 (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    20-COOH-leukotriene E420-COOH-LTE4 (see all 3)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    6,9,12,15,18,21-Tetracosahexaenoic acidall-cis-6,9,12,15,18,21-tetracosahexaenoate (see all 8)----

    3 DrugBank Compounds for ACSL4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Troglitazone-- 97322-87-7targetinhibitor11319222 12147264 11319232
    IcosapentEicosapentaenoic acid (see all 4)10417-94-4targetinducer15108178 12784866
    Rosiglitazone-- 122320-73-4targetinhibitor17259370

    5 Novoseek inferred chemical compound relationships for ACSL4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 78.3 16 9480748 (3), 11485311 (1), 15108178 (1), 15794766 (1) (see all 9)
    arachidonic acid 66.9 28 15108178 (3), 10924347 (3), 11005842 (2), 15794766 (2) (see all 10)
    fatty acid 45.1 1 11889465 (1)
    acth 33.2 4 10924347 (2), 16630718 (1), 15956337 (1)
    steroid 28.3 2 15794766 (1), 20360933 (1)



    ACSL4 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 ACSL4 gene (2 alternative transcripts): 
    NM_004458.2  NM_022977.2  

    Unigene Cluster for ACSL4:

    Acyl-CoA synthetase long-chain family member 4
    Hs.268785  [show with all ESTs]
    Unigene Representative Sequence: NM_022977
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000439581 ENST00000505075 ENST00000469796 ENST00000348502(uc004eoj.2)
    ENST00000514500 ENST00000505855 ENST00000502391 ENST00000508092 ENST00000504980
    ENST00000469857 ENST00000504383 ENST00000340800(uc004eoi.2 uc004eok.2 uc010npp.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ACSL4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACSL4 (see all 88):
    hsa-miR-15a hsa-miR-106a hsa-miR-374a hsa-miR-3653 hsa-miR-519a hsa-miR-93 hsa-miR-3613-3p hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidACSL4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACSL4
    Predesigned siRNA for gene silencing in human, mouse, rat ACSL4
    Clone
    Products:
         
    OriGene clones in human, mouse for ACSL4 (see all 12)
    OriGene ORF clones in mouse, rat for ACSL4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACSL4 (NM_022977)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSL4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACSL4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ACSL4
    OriGene qSTAR qPCR primer pairs in human, mouse for ACSL4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACSL4
      QuantiTect SYBR Green Assays in human, mouse, rat ACSL4
      QuantiFast Probe-based Assays in human, mouse, rat ACSL4

    Additional mRNA sequence: 

    AB061713.1 AB061714.1 AF030555.1 AK054631.1 AK292070.1 AK294197.1 AK294915.1 AK307566.1 
    BC034959.2 Y12777.1 Y13058.1 

    14 DOTS entries:

    DT.317429  DT.99998784  DT.92436948  DT.100814367  DT.105846  DT.121301757  DT.121301738  DT.121301650 
    DT.121301752  DT.100814371  DT.121301762  DT.40117087  DT.91830694  DT.100802668 

    Selected AceView cDNA sequences (see all 231):

    BQ219104 CB159241 N33823 AA921702 CA446060 BQ008315 AI269401 BG392638 
    AI359286 BX371469 BM452675 T30794 CB135029 AW089807 AI476545 BM684738 
    AI282399 BM930104 BM725420 CA450610 AA831304 AI367469 AB061714 BM905932 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACSL4 (see all 7)    About this scheme

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

    ExUns: 16
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for ACSL4

    (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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    ACSL4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATCAAAAA
    ACSL4 Expression
    About this image


    ACSL4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Inner Nuclear Layer
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    ACSL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACSL4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.268785
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACSL4 (see all 6): 
              Fatty Acid Metabolism in human mouse rat
              Insulin Resistance in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACSL4 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acsl41 , 5 acyl-CoA synthetase long-chain family member 41, 5 92.69(n)1
    96.77(a)1
      X (63.12 cM)5
    507901  NM_207625.21  NP_997508.11 
     1423179935 
    chicken
    (Gallus gallus)
    Aves ACSL41 acyl-CoA synthetase long-chain family member 4 79.47(n)
    85.94(a)
      422345  XM_004940806.1  XP_004940863.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACSL46
    acyl-CoA synthetase long-chain family member 4
    83(a)
    1 ↔ 1
    GL343202.1(4353074-4410943)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004947591 long-chain-fatty-acid--CoA ligase 4-like 76.42(n)
    81.43(a)
      100494759  XM_004916852.1  XP_004916909.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC057476.12   -- 76.81(n)   393622  BC057476.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Acsl6
    Acyl-CoA synthetase long-chain
    46(a)
    1 → many
    2R(4553318-4570527)
    worm
    (Caenorhabditis elegans)
    Secernentea acs-41 acs-4 53.24(n)
    46.61(a)
      176005  NM_066167.5  NP_498568.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAA4(YMR246W)4 Long chain fatty acyl-CoA synthetase, activates imported more   --   13(759807-761891) 855288  NP_013974.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LACS91 LACS9 53.33(n)
    48.27(a)
      844094  NM_106407.6  NP_177882.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g01687001 Os12g0168700 54.1(n)
    49.62(a)
      4351610  NM_001072788.1  NP_001066256.1 


    ENSEMBL Gene Tree for ACSL4 (if available)
    TreeFam Gene Tree for ACSL4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACSL4 gene
    ACSL32  
    6 SIMAP similar genes for ACSL4 using alignment to 7 protein entries:     ACSL4_HUMAN (see all proteins):
    FACL4    ACSL3    ACSL5    ACSL6    FACL5    ACSL1

    ACSL4 for paralogs           About GeneDecksing



    (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 ACSL4 (see all 1124)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0131804
    Mental retardation, X-linked 63 (MRX63)4--see VAR_0131802 R S mis40--------
    VAR_0363764
    A colorectal cancer sample4--see VAR_0363762 R C mis40--------
    rs1475476861,2
    --108864455(+) AAGCCA/GGTTTA 2 -- ds50010--------
    rs792654061,2
    F--108864819(+) CCTTAG/AAAACA 2 -- ut311Minor allele frequency- A:0.33NA 6
    rs1378816871,2
    --108865196(+) ATATGG/TAAAGA 2 -- ut310--------
    rs1868241921,2
    --108865228(+) ATTTTC/TAGATG 2 -- ut310--------
    rs559425371,2
    C--108865406(+) CAAATA/GTCTGA 2 -- ut310--------
    rs115520881,2
    C--108865482(-) GACTTC/TTCCAA 2 -- ut310--------
    rs1915557891,2
    C--108865552(+) TACTTC/GATAAT 2 -- ut310--------
    rs559556201,2
    C--108865918(+) TTTTAC/TAGTAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ACSL4 (108867473 - 108976632 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ACSL4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674329CNV Deletion23128226
    nsv7034CNV Loss18451855
    nsv438149CNV Loss16468122
    nsv523984CNV Gain19592680
    dgv2463e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): ACSL4
    Locus Specific Mutation Databases (LSDB): ACSL4

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACSL4
    DNA2.0 Custom Variant and Variant Library Synthesis for ACSL4

    (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: 300157   
    OMIM disorders: 300387  
    UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
  • Mental retardation, X-linked 63 (MRX63) [MIM:300387]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A
    X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss,
    mental retardation, midface hypoplasia and elliptocytosis. Note=The gene represented in this entry may be
    involved in disease pathogenesis

  • Selected diseases for ACSL4 (see all 30):    
    About MalaCards
    alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis    alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis    colon adenocarcinoma    alport syndrome
    mental retardation, x-linked    mental retardation, x-linked 17/31, microduplication    mental retardation    hypotonia
    intellectual disability    autism spectrum disorder    labyrinthitis    hepatocellular carcinoma
    schizophrenia    glomerulonephritis    major depressive disorder    breast and colorectal cancer
    adenocarcinoma    insulin resistance    adenoma    tonsillitis

    2 diseases from the University of Copenhagen DISEASES database for ACSL4:
    Intellectual disability     Alport syndrome

    ACSL4 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ACSL4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alports syndrome 77.1 3 9480748 (1), 20186809 (1), 12525535 (1)
    elliptocytosis hereditary 70 1 9480748 (1)
    mental retardation 59.5 15 18614287 (4), 11889465 (3), 12525535 (2), 9480748 (1) (see all 7)
    colon adenocarcinoma 56.4 2 12824887 (1), 11731423 (1)
    hepatocellular carcinoma 28.2 5 18059177 (1), 12824887 (1), 15849811 (1), 17934335 (1)
    colon cancer 26.7 3 15849811 (1), 11731423 (1)
    adenoma 14.5 4 11731423 (1)
    schizophrenia 1.56 1 15108178 (1)
    adenocarcinoma 0.199 3 11731423 (2)
    tumors 0 4 12824887 (1), 11731423 (1), 10924347 (1), 20360933 (1)

    Genetic Association Database (GAD): ACSL4
    Human Genome Epidemiology (HuGE) Navigator: ACSL4 (7 documents)

    Export disorders for ACSL4 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 ACSL4 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with ACSL4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. (PubMed id 15108178)1, 4, 7, 9 Covault J....Kranzler H.R. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004)
    2. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (PubMed id 9480748)1, 2, 3, 9 Piccini M.... Renieri A. (Genomics 1998)
    3. Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4). (PubMed id 9598324)1, 2, 9 Cao Y.... Prescott S.M. (Genomics 1998)
    4. No association between polymorphisms in the FACL4 (fatty acid-CoA ligase 4) gene and nonspecific mental retardation in Qin-Ba mountain region of China. (PubMed id 18614287)1, 4, 9 An C....Zhang F. (Neurosci. Lett. 2008)
    5. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X- linked mental retardation. (PubMed id 11889465)1, 2, 9 Meloni I.... Renieri A. (Nat. Genet. 2002)
    6. Fatty acid CoA ligase-4 gene polymorphism influences fatty acid metabolism in metabolic syndrome, but not in depression. (PubMed id 19346733)1, 4, 9 Zeman M....ZA!k A. (Tohoku J. Exp. Med. 2009)
    7. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. (PubMed id 12949969)1, 3, 9 Verot L....Edery P. (Am. J. Med. Genet. A 2003)
    8. 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. (Genome Res. 2004)
    9. Regulation of cell growth by fatty acid-CoA ligase 4 in human hepatocellular carcinoma cells. (PubMed id 17934335)1, 9 Sung Y.K....Kim M.K. (amp 2007)
    10. Fatty acid CoA ligase 4 is up-regulated in colon adenocarcinoma. (PubMed id 11731423)1, 9 Cao Y....Prescott S.M. (Cancer Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2182 HGNC: 3571 AceView: ACSL4 Ensembl:ENSG00000068366 euGenes: HUgn2182
    ECgene: ACSL4 Kegg: 2182 H-InvDB: ACSL4

    (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 ACSL4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACSL4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACSL4 gene:
    Search GeneIP for patents involving ACSL4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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