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

SLC25A20 Gene

protein-coding   GIFtS: 61
GCID: GC03M048869

solute carrier family 25 (carnitine/acylcarnitine translocase),...


(Previous symbol: CACT)
 Explore 18 diseases affiliated with
SLC25A20 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC25A20    

Aliases
for SLC25A20 gene

(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 25 (Carnitine/Acylcarnitine Translocase), Member
201 2
CAC1 2 3 5
CACT1 2 3 5
Mitochondrial Carnitine/Acylcarnitine Carrier Protein2
Carnitine/Acylcarnitine Translocase3
Solute Carrier Family 25 Member 203

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


Summaries
for SLC25A20 gene

(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 SLC25A20:
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)

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




Genomic Views
for SLC25A20 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 plasmid: SLC25A20 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLC25A20 gene

(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: MCAT_HUMAN, O43772 (See protein sequence)
Recommended Name: Mitochondrial carnitine/acylcarnitine carrier protein  
Size: 301 amino acids; 32944 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: B2R7F4 Q9UIQ2

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43772

    • SLC25A20 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000378.1  
    ENSEMBL proteins: 
     ENSP00000388986   ENSP00000326305   ENSP00000388563   ENSP00000438731  
    Reactome Protein details: O43772
    Human Recombinant Protein Products: 
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    Novus Biologicals SLC25A20 Protein
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SLC25A20

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

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


    SLC25A20 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SLC25A20 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC25A20 for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    Function
    for SLC25A20 gene

    (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: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: SLC25A20 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    2 GenomeRNAi human phenotypes for SLC25A20:
     Decreased viability with pacli  Increased cell death HMECs cel 


    Pathways & Interactions
    for SLC25A20 gene

    (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
    1Fatty Acid Beta Oxidation
    		Fatty Acid Beta Oxidation1.00
    		Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    3Import of palmitoyl-CoA into the mitochondrial matrix
    		Import of palmitoyl-CoA into the mitochondrial matrix1.00
    4Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    4        Reactome Pathways for SLC25A20
        Import of palmitoyl-CoA into the mitochondrial matrix
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins



    SLC25A20 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A20

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

    5/14 Interacting proteins for SLC25A20 (O437722, 3 ENSP000003263054) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 5 biological process terms (GO ID links to tree view):    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--
    GO:0046320regulation of fatty acid oxidation TAS--


    SLC25A20 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC25A20 gene

    (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

    SLC25A20 for compounds           About GeneDecksing

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

    Browse Tocris compounds for SLC25A20

    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 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)

    Search CenterWatch for drugs/clinical trials and news about SLC25A20 / MCAT 

    Transcripts
    for SLC25A20 gene

    (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 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 plasmid: SLC25A20 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK312962.1 BC001689.2 Y10319.1 

    4 DOTS entries:

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

    24/178 AceView cDNA sequences (see all 178):

    BI913588 AI080229 AI418890 BC001689 NM_000387 AA378439 AI142846 AI089619 
    BM554726 F08483 CD722123 CB154943 AI088398 AI278210 AI393014 CR607188 
    AI425000 CB117017 AA890480 CD172506 AI392993 BM550444 AI080227 AW299735 

    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

    Expression
    for SLC25A20 gene

    (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

    SLC25A20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGAGCTCACT

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

    SLC25A20 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC25A20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A20

    SOURCE GeneReport for Unigene cluster: Hs.13845
        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC25A20: 
              Mitochondrial Energy Metabolism in human mouse rat
              Mitochondria in human mouse rat

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    In Situ
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    Orthologs
    for SLC25A20 gene

    (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 eukaryotes.

    Orthologs for SLC25A20 gene from 9/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC25A201 solute carrier family 25 (carnitine/acylcarnitine translocase), more 77.41(n)
    86.05(a)    		   416062  XM_414400.3  XP_414400.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC25A206
    		 --
    		 82(a)
    		 1 ↔ 1
    		 2(187675320-187698762)
    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
    57.5(n)1
    52.92(a)1    		   23A53
    334701  NM_205896.11  NP_995618.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea dif-11 , 3 mitochondrial carrier family3
    Protein DIF-11    		 55(a)
    (best of 2)3
    56.55(n)1
    56.79(a)1    		   IV(7551812-7553004)3
    1775301  NM_068822.41  NP_501223.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes CRC1(YOR100C)4
    CRC11    		 Mitochondrial inner membrane carnitine transporter, more4
    Crc1p1    		 45.51(n)1
    35.79(a)1    		   15(514278-513295)4
    8542671, 4  NP_014743.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons BOU1 mitochondrial carnitine/acylcarnitine carrier-like more 46.48(n)
    42.29(a)    		   834724  NM_124051.4  NP_568670.1 
    rice
    (Oryza sativa)    		 Liliopsida Os10g05737001 hypothetical protein 50.18(n)
    42.35(a)    		   4349475  NM_001072003.1  NP_001065471.1 


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

    Paralogs
    for SLC25A20 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A20 gene
    SLC25A452  SLC25A22  SLC25A152  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

    SLC25A20 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SLC25A20
    PGOHUM00000243639


    Genomic Variants
    for SLC25A20 gene

    (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

    10/503 NCBI SNPs in SLC25A20 are shown (see all 503)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289345891,2
    		Cpathogenic83580594(-) ATTCCA/GGACTG 2 Q R mis1 ese30--------
    rs1147493511,2
    		F,--48893984(+) CTTTTG/ATCCTT 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1917717071,2
    		--48893990(+) TCCTTG/TTAGAA 1 -- int10--------
    rs1153233161,2
    		--48894005(+) TGACTC/TTCCAT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1169865031,2
    		--48894308(+) TACAGG/TCTGCC 1 -- int11Minor allele frequency- T:0.01EA 120
    rs1824531011,2
    		--48894529(+) AATTAA/GGCTAC 1 -- ut310--------
    rs1866359381,2
    		--48894556(+) ATTATC/TTGCAG 1 -- ut310--------
    rs1166813931,2
    		--48894784(+) CCAGTG/AAGAAC 1 -- ut311Minor allele frequency- A:0.01NA 120
    rs1925317551,2
    		--48894857(+) GCAGCA/GTTCTT 1 -- ut310--------
    rs1854508171,2
    		--48894867(+) TGCCAC/TAGGTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC25A20 (48894356 - 48936426 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SLC25A20
         1 Indel: 60418
    Human Gene Mutation Database (HGMD): SLC25A20

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A20

    Disorders / Diseases
    for SLC25A20 gene

    (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
    SLC25A20 for disorders           About GeneDecksing

    OMIM gene information: 613698   
    OMIM disorders: 212138  
    UniProtKB/Swiss-Prot: MCAT_HUMAN, O43772
  • Defects in SLC25A20 are the cause of carnitine-acylcarnitine translocase deficiency (CACT deficiency)
    • [MIM:212138]. It is an autosomal recessive deficiency in mitochondrial oxidation of fatty acids. It is usually lethal
    within a few hours or days after birth. Symptoms characterizing its normally severe clinical phenotype include fatty
    hepatomegaly with abnormal liver function, cardiomyopathy, muscle weakness and episodes of life-threatening coma,
    which eventually lead to death

    18 diseases for SLC25A20:    About MalaCards
    carnitine-acylcarnitine translocase deficiency    sudden infant death syndrome    hypoglycemia    fatty acid oxidation disorders
    gait apraxia    hepatitis    pre-eclampsia    ventricular tachycardia
    carnitine deficiency    hypoalphalipoproteinemia    protein s deficiency    insulin resistance
    cramps    eclampsia    cardiomyopathy    hepatoblastoma
    alzheimer's disease    myopathy

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

    10/15 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SLC25A20 (1 document)

    Export disorders for SLC25A20 gene to outside databases

    Publications
    for SLC25A20 gene

    (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 SLC25A20 gene, integrated from 9 sources (see all 85):
    (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. (1997)
    2. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (PubMed id 15365988)1, 2, 9 Iacobazzi V.... Taroni F. (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. (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. (2004)
    5. The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene. (PubMed id 9837782)1, 2, 9 Iacobazzi V....Palmieri F. (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. (1997)
    7. 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)
    8. 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. (2003)
    9. 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. (2000)
    10. Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. (PubMed id 11592821)1, 9 Hsu B.Y....Stanley C.A. (2001)

    External Searches for SLC25A20 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing SLC25A20 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 788 HGNC: 1421 AceView: SLC25A20 Ensembl:ENSG00000178537 euGenes: HUgn788
    ECgene: SLC25A20 H-InvDB: SLC25A20

    Other Databases showing SLC25A20 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC25A20 gene

    (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 SLC25A20 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A20

    Intellectual Property
    for SLC25A20 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC25A20 gene:
    Search GeneIP for patents involving SLC25A20

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