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

SLC6A8 Gene

protein-coding   GIFtS: 61
GCID: GC0XP152953

solute carrier family 6 (neurotransmitter transporter, creatine),...

 Explore 13 diseases affiliated with
SLC6A8 via our new
 Human Malady Compendium 
Biological research products
for SLC6A8
    

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

Aliases
Solute Carrier Family 6 (Neurotransmitter Transporter, Creatine), Member
81 2
     Solute Carrier Family 6 Member 82 3
CT11 2 3     CRT2
CRTR1 2 5     Creatine Transporter SLC6A82
Creatine Transporter 12 3     Sodium- And Chloride-Dependent Creatine Transporter 12

External Ids:    HGNC: 110551   Entrez Gene: 65352   Ensembl: ENSG000001308217   OMIM: 3000365   UniProtKB: P480293   

Export aliases for SLC6A8 gene to outside databases

Previous GC identifers: GC0XP147090 GC0XP149408 GC0XP150539 GC0XP151421 GC0XP152301 GC0XP152433 GC0XP152606 GC0XP141612


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

Entrez Gene summary for SLC6A8:
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of
cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Dec 2008)

UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
Function: Required for the uptake of creatine in muscles and brain

Gene Wiki entry for SLC6A8


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167198.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC6A8 gene promoter:
         E2F-3a   Sp1   E2F   E2F-1   E2F-2   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC6A8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC6A8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC6A8


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

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq28

SLC6A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC6A8 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP152953:  view genomic region     (about GC identifiers)

Start:
152,953,554 bp from pter      End:
152,962,048 bp from pter
Size:
8,495 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029 (See protein sequence)
Recommended Name: Sodium- and chloride-dependent creatine transporter 1  
Size: 635 amino acids; 70523 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: B2KY47 B4DIA3 E9PFC0 Q13032 Q66I36
Alternative splicing: 4 isoforms:  P48029-1   P48029-2   P48029-3   P48029-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC6A8: NX_P48029

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P48029

  • SLC6A8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001136277.1  NP_001136278.1  NP_005620.1  

    ENSEMBL proteins: 
     ENSP00000253122   ENSP00000403041   ENSP00000404046   ENSP00000400463   ENSP00000403682  
     ENSP00000394742  
    Reactome Protein details: P48029
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    Uscn Proteins for SLC6A8

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane IEA--
    GO:0016021integral to membrane TAS7953292


    SLC6A8 for ontologies           About GeneDecksing



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

    SLC6A8 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000175 Na/ntran_symport
     IPR002984 Na/ntran_symport_creatine

    Graphical View of Domain Structure for InterPro Entry P48029

    ProtoNet protein and cluster: P48029

    1 Blocks protein family: IPB002984 Creatine transporter signature

    UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
    Similarity: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily


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

    Function Summary:

         UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
    Function: Required for the uptake of creatine in muscles and brain

         Genatlas biochemistry entry for SLC6A8:
    solute carrier family 6,member A8,neurotransmitter transporter,creatine

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    hsa-miR-19b-2* hsa-miR-300 hsa-miR-138-2* hsa-miR-519a hsa-miR-149 hsa-miR-654-5p hsa-miR-3148 hsa-miR-374b*
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005308creatine transmembrane transporter activity NAS8661037
    GO:0005309creatine:sodium symporter activity IEA--
    GO:0005328neurotransmitter:sodium symporter activity IEA--
    GO:0015220choline transmembrane transporter activity IEA--


    SLC6A8 for ontologies           About GeneDecksing


    Animal Models:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Slc6a8):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  no phenotypic analysis 

    SLC6A8 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    2Metabolism
    Metabolism1.00
    3creatine-phosphate biosynthesis
    Creatine metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for SLC6A8
        Creatine metabolism
    Metabolism
    Metabolism of amino acids and derivatives



    SLC6A8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC6A8

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for SLC6A8 (P480293 ENSP000002531224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD59P139873, ENSP000003402104I2D: score=2 STRING: ENSP00000340210
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600creatine metabolic process TAS--
    GO:0006810transport TAS7953292
    GO:0006936muscle contraction TAS8661155
    GO:0008150biological_process ND--
    GO:0015871choline transport ----


    SLC6A8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC6A8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC6A8

    2 HMDB Compounds for SLC6A8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SLC6A8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Creatine(alpha-Methylguanido)acetic acid (see all 6)57-00-1target--16949212 17486546 16763899 16849631 17385170

    3 Novoseek chemical compound relationships for SLC6A8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanidinoacetate 89 3 12597058 (1), 17385170 (1), 18652072 (1)
    creatinine 60.8 28 12597058 (2), 16738945 (2), 17603797 (2), 11898126 (2) (see all 10)
    arginine 35.3 1 18258176 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC6A8 / SC6A8 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC6A8 gene (3 alternative transcripts): 
    NM_001142805.1  NM_001142806.1  NM_005629.3  

    Unigene Cluster for SLC6A8:

    Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
    Hs.540696  [show with all ESTs]
    Unigene Representative Sequence: L31409
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253122(uc004fib.3 uc004fic.3 uc011myx.1 uc010nuj.2)
    ENST00000476466 ENST00000430077(uc010nui.1) ENST00000466243 ENST00000467402
    ENST00000429147 ENST00000485324 ENST00000413787 ENST00000442457 ENST00000457723


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    hsa-miR-19b-2* hsa-miR-300 hsa-miR-138-2* hsa-miR-519a hsa-miR-149 hsa-miR-654-5p hsa-miR-3148 hsa-miR-374b*
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    Additional cDNA sequence: 

    AB209704.1 AK295495.1 AK309060.1 BC012355.1 BC081558.1 BC128089.1 L31409.1 U17986.1 

    11 DOTS entries:

    DT.208191  DT.121313457  DT.101960135  DT.95122312  DT.121313424  DT.121317745  DT.91770795  DT.95155614 
    DT.97777592  DT.121313459  DT.91747644 

    24/420 AceView cDNA sequences (see all 420):

    BU188850 F05064 CF243138 AI313496 BM686758 BM469011 AI188573 BQ941459 
    BI520007 AI554610 BU728309 CA424985 BM672940 BX283221 BM564619 BU753220 
    BQ427669 AI745370 BM771864 BU622792 AW297931 BM719623 AA435763 BM770194 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC6A8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCATTTTCCA

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

    About this image
    See SLC6A8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC6A8

    SOURCE GeneReport for Unigene cluster: Hs.540696

    UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
    Tissue specificity: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis
    and prostate

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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC6A8 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SLC6A86
    --
    79(a)
    1 ↔ 1
    Un(7934832-7935734)
    lizard
    (Anolis carolinensis)
    Reptilia SLC6A86
    --
    85(a)
    1 ↔ 1
    2(86877658-86918354)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.167702 Transcribed sequence with weak similarity to protein more 75.91(n)    BI472886.1 
    worm
    (Caenorhabditis elegans)
    Secernentea snf-113 Na(+)/Cl(-)-dependent GABA transporter 47(a)
    (best of 7)
      V(11307950-11311658)   --


    ENSEMBL Gene Tree for SLC6A8 (if available)
    TreeFam Gene Tree for SLC6A8 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC6A8 gene
    SLC6A62  SLC6A112  SLC6A122  SLC6A142  SLC6A52  SLC6A32  SLC6A12  SLC6A132  
    SLC6A42  SLC6A72  SLC6A22  SLC6A92  
    18 SIMAP similar genes for SLC6A8 using alignment to 6 protein entries:     SC6A8_HUMAN (see all proteins):
    SLC6A6    SLC6A12    SLC6A11    SLC6A1    SLC6A4    SLC6A13
    SLC6A3    SLC6A9    SLC6A2    SLC6A7    SLC6A5    SLC6A14
    SLC6A15    SLC6A20    DKFZp761I0921    SLC6A17    SLC6A19    SLC6A18

    SLC6A8 for paralogs           About GeneDecksing


    5/9 Pseudogenes.org Pseudogenes for SLC6A8 (see all 9)
    PGOHUM00000262930 PGOHUM00000262931 PGOHUM00000262939 PGOHUM00000262334 PGOHUM00000259130


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/205 NCBI SNPs in SLC6A8 are shown (see all 205    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1874536271,2
    --152951771(+) TCTCTC/GCCTTC 2 -- us2k10--------
    rs22668641,2
    H--152951912(+) TCACGC/TGCCCA 2 -- us2k11Minor allele frequency- T:0.00NS 120
    rs1478788941,2
    --152951966(+) CGGGTA/CCTCTT 2 -- us2k10--------
    rs1415081041,2
    --152952083(+) CACTTA/CTCTAA 2 -- us2k10--------
    rs22668651,2
    C,H--152952379(+) TTAACG/AGGATG 2 -- us2k15Minor allele frequency- A:0.00NS EA NA 420
    rs736337441,2
    C,--152952440(+) GAGGGA/GGGCAC 2 -- us2k11Minor allele frequency- G:0.00WA 2
    rs1910848441,2
    --152952460(+) CCCAGA/GCCAGG 2 -- us2k10--------
    rs22668661,2
    C,--152952580(+) TGCTAC/GGGAGG 2 -- us2k10--------
    rs1828502781,2
    --152952679(+) GCACCC/TGCCAG 2 -- us2k10--------
    rs1872673411,2
    --152952709(+) CCTTGC/TTCCCG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC6A8 (152953554 - 152962048 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SLC6A8
         3 CNVs: 74083 97102 74082
    Human Gene Mutation Database (HGMD): SLC6A8

    Locus Specific Mutation Databases (LSDB): SLC6A8

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    (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.)
    About This Section

    SLC6A8 for disorders           About GeneDecksing

    OMIM gene information: 300036   
    OMIM disorders: 300352  
    UniProtKB/Swiss-Prot: SC6A8_HUMAN, P48029
  • Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]. XL-CDS causes
  • developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia

    13 diseases for SLC6A8:    About MalaCards
    x-linked creatine deficiency    creatine deficiency syndrome    fragile x syndrome    autism spectrum disorder
    intractable epilepsy    x inactivation    short stature    intellectual disability
    hypotonia    seizures    cerebritis    prostatitis
    sepsis

    3 diseases from the University of Copenhagen DISEASES database for SLC6A8:
    AGAT deficiency     Intellectual disability     Ornithine translocase deficiency

    2 Novoseek disease relationships for SLC6A8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 60.6 10 16738945 (2), 11898126 (2), 12597058 (1), 18515020 (1) (see all 5)
    epilepsy 33.2 3 18515020 (1)

    GeneTests: SLC6A8
    Creatine Deficiency Syndromes

    Human Genome Epidemiology (HuGE) Navigator: SLC6A8 (3 documents)

    Export disorders for SLC6A8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC6A8 gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with SLC6A8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. (PubMed id 18515020)1, 2, 9 Martinez-Munoz C....Salomons G.S. (2008)
    2. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (PubMed id 11898126)1, 2, 9 Hahn K.A.... Schwartz C.E. (2002)
    3. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. (PubMed id 17101918)1, 2 Lion-Francois L.... des Portes V. (2006)
    4. High prevalence of SLC6A8 deficiency in X-linked mental retardation. (PubMed id 15154114)1, 2 Rosenberg E.H.... Salomons G.S. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. (PubMed id 12210795)1, 2 Bizzi A.... Uziel G. (2002)
    7. The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. (PubMed id 8661155)1, 2 Sandoval N....Platzer M. (1996)
    8. Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. (PubMed id 7774949)1, 3 Gregor P....Warren S.T. (1995)
    9. Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family. (PubMed id 7622069)1, 2 Barnwell L.F.... Townsel J.G. (1995)
    10. Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. (PubMed id 7953292)1, 2 Nash S.R.... Caron M.G. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6535 HGNC: 11055 AceView: SLC6A8 Ensembl:ENSG00000130821 euGenes: HUgn6535
    ECgene: SLC6A8 H-InvDB: SLC6A8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC6A8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A8

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC6A8 gene:
    Search GeneIP for patents involving SLC6A8

    GeneCards and IP:
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