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SLC25A20 Gene

protein-coding   GIFtS: 63
GCID: GC03M048869

Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase),...


(Previous symbol: CACT)
  See SLC25A20-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
Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member
201 2
     Carnitine-Acylcarnitine Carrier1
CACT1 2 3 5     Mitochondrial Carnitine/Acylcarnitine Carrier Protein2
CAC2 3 5     Solute Carrier Family 25 Member 203
Carnitine/Acylcarnitine Translocase1 3     

External Ids:    HGNC: 14211   Entrez Gene: 7882   Ensembl: ENSG000001785377   OMIM: 6136985   UniProtKB: O437723   

Export aliases for SLC25A20 gene to outside databases

Previous GC identifers: GC03U990014 GC03P048129 GC03M048748 GC03M048853


(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 SLC25A20 Gene:
This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle
substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of
acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway.
Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a
variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and
muscle weakness, and is usually lethal in new born and infants. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC25A20 Gene:
SLC25A20 (solute carrier family 25 (carnitine/acylcarnitine translocase), member 20) is a protein-coding gene. Diseases associated with SLC25A20 include carnitine-acylcarnitine translocase deficiency, and gait apraxia. An important paralog of this gene is SLC25A45.

UniProtKB/Swiss-Prot: MCAT_HUMAN, O43772
Function: Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane
from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation
pathway




(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 at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC25A20 gene promoter:
         AhR   Elk-1   Pax-2   Pax-2a   Arnt   RORalpha1   Pax-2b   Zic1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC25A20 promoter sequence
   Search Chromatin IP Primers for SLC25A20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC25A20


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

SLC25A20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A20 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M048869:  view genomic region     (about GC identifiers)

Start:
48,894,356 bp from pter      End:
48,936,426 bp from pter
Size:
42,071 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MCAT_HUMAN, O43772 (See protein sequence)
Recommended Name: Mitochondrial carnitine/acylcarnitine carrier protein  
Size: 301 amino acids; 32944 Da
Secondary accessions: B2R7F4 Q9UIQ2

Explore the universe of human proteins at neXtProt for SLC25A20: NX_O43772

Explore proteomics data for SLC25A20 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys244
  • Modification sites at PhosphoSitePlus

  • See SLC25A20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000378.1  
    ENSEMBL proteins: 
     ENSP00000388986   ENSP00000326305   ENSP00000388563   ENSP00000438731  
    Reactome Protein details: O43772

    SLC25A20 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for SLC25A20 (2 products) 

     
    antibodies-online peptides for SLC25A20

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Carnitine/acylcarnitine carrier
    Miscellaneous SLC25 mitochondrial transporters

    2 InterPro protein domains:
     IPR023395 Mt_carrier_dom
     IPR018108 Mitochondrial_sb/sol_carrier

    Graphical View of Domain Structure for InterPro Entry O43772

    ProtoNet protein and cluster: O43772

    UniProtKB/Swiss-Prot: MCAT_HUMAN, O43772
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 3 Solcar repeats


    Find genes that share domains with SLC25A20           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCAT_HUMAN, O43772
    Function: Mediates the transport of acylcarnitines of different length across the mitochondrial inner membrane
    from the cytosol to the mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation
    pathway

    Phenotypes:
         2 GenomeRNAi human phenotypes for SLC25A20:

     Decreased viability with pacli  Increased cell death HMECs cel 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SLC25A20

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate SLC25A20:
    hsa-miR-3685 hsa-miR-155* hsa-miR-26a hsa-miR-26b hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A20 3' UTR sequence
    Inhib. RNA
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    (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
    MCAT_HUMAN, O43772: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    plasma membrane2
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SLC25A20           About GenesLikeMe


    (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 SLC25A20 About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Import of palmitoyl-CoA into the mitochondrial matrix0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Mitochondrial LC-Fatty Acid Beta-Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    Fatty Acid Beta Oxidation0.35


    Find genes that share SuperPaths with SLC25A20           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SLC25A20
        Fatty Acid Beta Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation


    1 Reactome Pathway for SLC25A20
        Import of palmitoyl-CoA into the mitochondrial matrix


        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC25A20: 
              Mitochondrial Energy Metabolism in human mouse rat
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC25A20

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SLC25A20 (O437722, 3 ENSP000003263054) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRAMP1LQ96RY52, 3, ENSP000002939254MINT-63166 I2D: score=1 STRING: ENSP00000293925
    HN1LQ9H9103, ENSP000002480984I2D: score=3 STRING: ENSP00000248098
    GABARAPL1Q9H0R83I2D: score=2 
    ACACBO007633I2D: score=1 
    EFTUD1Q7Z2Z23I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006853carnitine shuttle TAS--
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

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    (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 SLC25A20 (MCAT)

    8 HMDB Compounds for SLC25A20    About this table
    CompoundSynonyms CAS #PubMed Ids
    4,8 dimethylnonanoyl carnitine4,8-dimethylnonanoylcarnitine ----
    Capric acid1-Nonanecarboxylate (see all 25)334-48-5--
    Caproic acid1-Hexanoate (see all 26)142-62-1--
    Caprylic acid1-Heptanecarboxylate (see all 21)124-07-2--
    Dodecanoic acid1-Undecanecarboxylate (see all 28)143-07-7--
    L-Acetylcarnitine(-)-Acetylcarnitine (see all 14)3040-38-8--
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--
    Propionylcarnitine(+/-)-Propionylcarnitine chloride (see all 8)17298-37-2--

    1 DrugBank Compound for SLC25A20    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Carnitine(-)-Carnitine (see all 6)541-15-1target--12882971 15515015 15757911

    9 Novoseek inferred chemical compound relationships for SLC25A20 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine 87.2 61 15363639 (2), 10697964 (2), 16602102 (2), 18307102 (2) (see all 29)
    s-adenosylmethionine 84.1 25 15363639 (2), 10697964 (2), 18307102 (2), 15057979 (2) (see all 16)
    pristanic acid 78.3 3 18077198 (1), 9469587 (1)
    fatty acid 70.6 31 11991847 (3), 9837782 (2), 11592821 (2), 12507404 (2) (see all 18)
    acyl-coa 57.6 3 12882971 (1), 7494405 (1)
    lipid 0.463 5 15515015 (2), 10331465 (1), 12882971 (1), 15365988 (1)
    glucose 0 2 11095470 (1), 17277394 (1)
    arginine 0 1 15159657 (1)
    creatinine 0 1 15363639 (1)



    Find genes that share compounds with SLC25A20           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC25A20 gene: 
    NM_000387.5  

    Unigene Cluster for SLC25A20:

    Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
    Hs.13845  [show with all ESTs]
    Unigene Representative Sequence: NM_000387
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430379 ENST00000319017(uc003cva.4 uc011bbw.2) ENST00000479050
    ENST00000440964 ENST00000544097
    miRNA
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    hsa-miR-3685 hsa-miR-155* hsa-miR-26a hsa-miR-26b hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidSLC25A20 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat SLC25A20

    Additional mRNA sequence: 

    AK312962.1 BC001689.2 Y10319.1 

    4 DOTS entries:

    DT.113651  DT.113653  DT.95335165  DT.91733660 

    Selected AceView cDNA sequences (see all 178):

    AI393014 BI913588 BC001689 NM_000387 AI142846 AA305590 AI089619 AI418890 
    AA378439 AI392993 AI361172 CB154943 BQ026854 AJ346649 CD722123 BM554726 
    F08483 AI088398 AI278210 CR620282 BQ440702 AW299735 AI080227 AI425000 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A20    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                                                  
    SP2:                    -     -                                       


    ECgene alternative splicing isoforms for SLC25A20

    (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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    SLC25A20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGCTCACT
    SLC25A20 Expression
    About this image


    SLC25A20 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Liver (Hepatobiliary System)
    SLC25A20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC25A20 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.13845
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC25A20: 
              Mitochondrial Energy Metabolism in human mouse rat
              Mitochondria in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC25A20

    (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 SLC25A20 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc25a201 , 5 solute carrier family 25 (mitochondrial carnitine/acylcarnitine more1, 5 89.15(n)1
    93.02(a)1
      9 (59.61 cM)5
    572791  NM_020520.41  NP_065266.11 
     1086620985 
    chicken
    (Gallus gallus)
    Aves SLC25A201 solute carrier family 25 (carnitine/acylcarnitine translocase), more 77.41(n)
    86.05(a)
      416062  XM_414400.4  XP_414400.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC25A206
    solute carrier family 25 (carnitine/acylcarnitine ...
    82(a)
    1 ↔ 1
    2(187671828-187698926)
    African clawed frog
    (Xenopus laevis)
    Amphibia slc25a20-prov2 solute carrier family 25 (carnitine/acylcarnitine translocase), more 76.78(n)    BC043827.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc777602 hypothetical protein MGC77760 76.32(n)   393833  BC062851.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta colt1 , 3 carnitine/acyl carnitine carrier3
    congested-like trachea1
    52(a)
    (best of 2)3
    56.95(n)1
    52.2(a)1
      23A53
    334701  NM_057873.51  NP_477221.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dif-11 , 3 mitochondrial carrier family3
    dif-11
    55(a)
    (best of 2)3
    55.91(n)1
    55.79(a)1
      IV(7551812-7553004)3
    1775301  NM_068822.51  NP_501223.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CRC1(YOR100C)4
    CRC11
    Mitochondrial inner membrane carnitine transporter, more4
    CRC11
    45.76(n)1
    36.16(a)1
      15(514278-513295)4
    8542671, 4  NP_014743.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BOU1 BOU 46.31(n)
    42.14(a)
      834724  NM_124051.4  NP_568670.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05737001 Os10g0573700 50.36(n)
    42.5(a)
      4349475  NM_001072003.1  NP_001065471.1 


    ENSEMBL Gene Tree for SLC25A20 (if available)
    TreeFam Gene Tree for SLC25A20 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC25A20 gene
    SLC25A452  SLC25A482  SLC25A472  SLC25A292  
    11 SIMAP similar genes for SLC25A20 using alignment to 4 protein entries:     MCAT_HUMAN (see all proteins):
    SLC25A2    SLC25A12    SLC25A13    SLC25A15    SLC25A32    SLC25A29
    SLC25A48    LOC283130    SLC25A45    SLC25A47    FLJ00351

    Find genes that share paralogs with SLC25A20           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SLC25A20
    PGOHUM00000243639


    (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 SLC25A20 (see all 668)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289345891,2,,4
    CCarnitine-acylcarnitine translocase deficiency (CACT deficiency)4 pathogenic148828651(-) ATTCCA/GGACTG 2 Q R mis1 ese30--------
    VAR_0218194
    Carnitine-acylcarnitine translocase deficiency (CACT deficiency)4--see VAR_0218192 D H mis40--------
    VAR_0218184
    Carnitine-acylcarnitine translocase deficiency (CACT deficiency)4--see VAR_0218182 R W mis40--------
    rs1147493511,2
    C,F--48826105(+) CTTTTG/ATCCTT 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1917717071,2
    --48826111(+) TCCTTG/TTAGAA 1 -- int10--------
    rs1153233161,2
    F--48826126(+) TGACTC/TTCCAT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs780848361,2
    C,F--48826415(+) GCCTCC/TACCAA 1 -- int11Minor allele frequency- T:0.03EA 120
    rs1169865031,2
    C,F--48826429(+) TACAGG/TCTGCC 1 -- int11Minor allele frequency- T:0.01EA 120
    rs760878161,2
    C,F--48826482(+) TGCAAA/GAATTA 1 -- ut311Minor allele frequency- G:0.02NA 120
    rs148281,2
    C,F--48826566(+) ACACCC/TTGGGC 1 -- ut313Minor allele frequency- T:0.05MN WA 304

    HapMap Linkage Disequilibrium report for SLC25A20 (48894356 - 48936426 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SLC25A20:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv6072CNV Gain19470904

    Human Gene Mutation Database (HGMD): SLC25A20
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC25A20
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A20

    (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: 613698   
    OMIM disorders: 212138  
    UniProtKB/Swiss-Prot: MCAT_HUMAN, O43772
  • Carnitine-acylcarnitine translocase deficiency (CACT deficiency) [MIM:212138]: A rare long-chain fatty
    acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions,
    hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and
    abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include
    neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of
    life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period
    with a rapidly progressive deterioration and a high mortality rate. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for SLC25A20:    
    About MalaCards
    carnitine-acylcarnitine translocase deficiency    gait apraxia    fatty acid oxidation disorders    apraxia
    hypoglycemia    hypoalphalipoproteinemia    sudden infant death syndrome

    1 disease from the University of Copenhagen DISEASES database for SLC25A20:
    Gait apraxia

    Find genes that share disorders with SLC25A20           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SLC25A20 gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperammonemia 80.2 10 7472823 (2), 12507404 (2), 15363639 (1), 16602102 (1) (see all 7)
    hypoglycemia 67.4 9 15363639 (1), 8450053 (1), 11350184 (1), 15365988 (1) (see all 8)
    cardiomyopathy 61.2 5 7564255 (1), 15365988 (1), 16602102 (1), 9544911 (1) (see all 5)
    protein deficiency 59.3 3 10331465 (1), 16297647 (1), 10577999 (1)
    defect conduction 46.7 1 10577999 (1)
    mitochondrial diseases 46.5 1 10331465 (1)
    enzyme deficiency 44.3 1 16919490 (1)
    sudden infant death syndrome 28.5 1 17277394 (1)
    arrhythmia 27.7 2 16602102 (1), 12801121 (1)
    liver failure 15.4 1 15365988 (1)

    Genetic Association Database (GAD): SLC25A20
    Human Genome Epidemiology (HuGE) Navigator: SLC25A20 (1 document)

    Export disorders for SLC25A20 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 SLC25A20 gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with SLC25A20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. (PubMed id 9399886)1, 2, 3, 9 Huizing M....Palmieri F. (Am. J. Hum. Genet. 1997)
    2. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (PubMed id 15365988)1, 2, 9 Iacobazzi V.... Taroni F. (Hum. Mutat. 2004)
    3. Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells. (PubMed id 15515015)1, 7, 9 Peluso G....Calvani M. (J. Cell. Physiol. 2005)
    4. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. (PubMed id 15057979)1, 2, 9 Iacobazzi V.... Longo N. (Am. J. Med. Genet. A 2004)
    5. The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene. (PubMed id 9837782)1, 2, 9 Iacobazzi V....Palmieri F. (Biochem. Biophys. Res. Commun. 1998)
    6. Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. (PubMed id 9533014)1, 3, 9 Viggiano L....Palmieri F. (Cytogenet. Cell Genet. 1997)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    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. A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. (PubMed id 12859414)1, 2 Al-Aqeel A.I.... Wanders R.J.A. (Clin. Genet. 2003)
    10. Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. (PubMed id 10697964)1, 9 Ogawa A....Kohno Y. (J. Hum. Genet. 2000)

    (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: 788 HGNC: 1421 AceView: SLC25A20 Ensembl:ENSG00000178537 euGenes: HUgn788
    ECgene: SLC25A20 H-InvDB: SLC25A20

    (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 SLC25A20 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC25A20[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 SLC25A20 gene:
    Search GeneIP for patents involving SLC25A20

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



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