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

SLC25A12 Gene

protein-coding   GIFtS: 61
GCID: GC02M172604

solute carrier family 25 (aspartate/glutamate carrier),...

(Previous names: solute carrier family 25 (mitochondrial carrier, Aralar),...)
 Explore 7 diseases affiliated with
SLC25A12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SLC25A12    

Aliases
for SLC25A12 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 (Aspartate/Glutamate Carrier), Member 121 2     Araceli Hiperlarga2
Solute Carrier Family 25 (Mitochondrial Carrier, Aralar), Member 121 2     Calcium Binding Mitochondrial Carrier Superfamily Member Aralar12
Mitochondrial Aspartate Glutamate Carrier 12 3     Calcium-Binding Mitochondrial Carrier Protein Aralar12
ARALAR2 5     ARALAR13
Aralar1     Solute Carrier Family 25 Member 123
AGC12     

External Ids:    HGNC: 109821   Entrez Gene: 86042   Ensembl: ENSG000001158407   OMIM: 6036675   UniProtKB: O757463   

Export aliases for SLC25A12 gene to outside databases

Previous GC identifers: GC02M170692 GC02M171182 GC02M172843 GC02M172466 GC02M172349 GC02M164525


Summaries
for SLC25A12 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 SLC25A12:
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria
and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in
this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral
hypomyelination. Alternatively spliced transcript variants have been observed for this gene. (provided by RefSeq, Apr
2012)

UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the
mitochondrial inner membrane. May have a function in the urea cycle

Gene Wiki entry for SLC25A12


Genomic Views
for SLC25A12 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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC25A12 gene promoter:
         TBP   Sox5   AML1a   FOXD3   POU2F1   POU2F1a   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC25A12 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC25A12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC25A12


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

Entrez Gene cytogenetic band: 2q24   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q24

SLC25A12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC25A12 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M172604:  view genomic region     (about GC identifiers)

Start:
 172,639,915 bp from pter      End:
 172,864,766 bp from pter
Size:
 224,852 bases      Orientation:
 minus strand

Proteins
for SLC25A12 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: CMC1_HUMAN, O75746 (See protein sequence)
Recommended Name: Calcium-binding mitochondrial carrier protein Aralar1  
Size: 678 amino acids; 74762 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Miscellaneous: Binds calcium
Secondary accessions: Q96AM8

Explore the universe of human proteins at neXtProt for SLC25A12: NX_O75746

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75746

    • SLC25A12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003696.2  
    ENSEMBL proteins: 
     ENSP00000388658   ENSP00000263812   ENSP00000413968   ENSP00000437845   ENSP00000376371  
    Reactome Protein details: O75746
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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA9722566
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral to membrane NAS9722566


    SLC25A12 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SLC25A12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC25A12 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR002067 Mit_carrier
     IPR023395 Mt_carrier_dom

    Graphical View of Domain Structure for InterPro Entry O75746

    ProtoNet protein and cluster: O75746

    UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
    Similarity: Belongs to the mitochondrial carrier (TC 2.A.29) family
    Similarity: Contains 4 EF-hand domains
    Similarity: Contains 3 Solcar repeats


    Function
    for SLC25A12 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: CMC1_HUMAN, O75746
    Function: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the
    mitochondrial inner membrane. May have a function in the urea cycle

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    hsa-miR-576-3p hsa-miR-323-3p hsa-miR-100* hsa-miR-361-5p hsa-miR-607 hsa-miR-301a hsa-miR-519a hsa-miR-570
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    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005313L-glutamate transmembrane transporter activity IDA11566871
    GO:0005509calcium ion binding IDA9722566
    GO:0015183L-aspartate transmembrane transporter activity IDA11566871


    SLC25A12 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SLC25A12:
     Decreased Salmonella enterica  

    Animal Models:
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Slc25a12):
     behavior/neurological  cellular  growth/size  mortality/aging  nervous system 

    SLC25A12 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SLC25A12 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
    1Glucose metabolism
    		Glucose metabolism1.00
    		Gluconeogenesis0.50
    2Mitochondrial Protein Import
    		Mitochondrial Protein Import1.00
    3Metabolism
    		Metabolism1.00
    4MPS IIIC - Sanfilippo syndrome C
    		Metabolism of carbohydrates0.47
    5Asparagine N-linked glycosylation
    		Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for SLC25A12 (see all 6)
        Gluconeogenesis
    Metabolism of carbohydrates
    Metabolism
    Mitochondrial Protein Import
    Glucose metabolism



    SLC25A12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC25A12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/249 Interacting proteins for SLC25A12 (O757462, 3 ENSP000003886584) via UniProtKB, MINT, STRING, and/or I2D (see all 249)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    PELOQ9BRX23, ENSP000002743114I2D: score=2 STRING: ENSP00000274311
    PHLDA3Q9Y5J53, ENSP000003562784I2D: score=2 STRING: ENSP00000356278
    SMAD3P840223, ENSP000003329734I2D: score=2 STRING: ENSP00000332973
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--
    GO:0015810aspartate transport IDA11566871
    GO:0015813L-glutamate transport IDA11566871


    SLC25A12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC25A12 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

    SLC25A12 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC25A12

    2 HMDB Compounds for SLC25A12    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--

    1 DrugBank Compound for SLC25A12    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17237342 17151801 17497669 17213189

    3 Novoseek chemical compound relationships for SLC25A12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 53.2 6 11566871 (3), 15254020 (2), 19641205 (1)
    glutamate 40.5 5 11566871 (3), 15254020 (2)
    calcium 0.78 2 15254020 (1), 10642534 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC25A12 / CMC1 

    Transcripts
    for SLC25A12 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 SLC25A12 gene: 
    NM_003705.4  

    Unigene Cluster for SLC25A12:

    Solute carrier family 25 (aspartate/glutamate carrier), member 12
    Hs.470608  [show with all ESTs]
    Unigene Representative Sequence: NM_003705
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000422440(uc002uhh.2 uc010fqh.2) ENST00000263812 ENST00000472070
    ENST00000494892 ENST00000485880 ENST00000426896(uc010zdv.1) ENST00000475360
    ENST00000472748 ENST00000484227 ENST00000464063 ENST00000392592

    miRNA
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    8/63 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC25A12 (see all 63):
    hsa-miR-576-3p hsa-miR-323-3p hsa-miR-100* hsa-miR-361-5p hsa-miR-607 hsa-miR-301a hsa-miR-519a hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmid: SLC25A12 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AJ496568.1 AK022828.1 AK054941.1 AK091071.1 AK294638.1 BC016932.1 NR_047549.1 Y14494.1 

    12 DOTS entries:

    DT.416086  DT.425367  DT.95274275  DT.100677634  DT.100700657  DT.91656694  DT.95274274  DT.120943153 
    DT.91937744  DT.99956002  DT.91920012  DT.91944731 

    24/188 AceView cDNA sequences (see all 188):

    BX342054 BQ052410 Z45315 CA424847 BG656079 BQ068281 AA404701 AA166970 
    AA172172 BU193279 CF134619 Z43182 BM142398 AI803179 BM142257 AK091071 
    AA938107 Z41030 BQ218079 BM668520 BF589845 AW058317 BI966134 AA780412 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A12    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
    SP1:                                            -                       -                                   -                           
    SP2:                    -                       -                       -                                   -                           
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    


    ECgene alternative splicing isoforms for SLC25A12

    Expression
    for SLC25A12 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

    SLC25A12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAGTGGATG

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

    SLC25A12 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)
    BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SLC25A12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC25A12

    SOURCE GeneReport for Unigene cluster: Hs.470608

    UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
    Tissue specificity: High levels in heart and skeletal muscle, low in brain and very low in kidney

        SABiosciences Expression via Pathway-Focused PCR Array including SLC25A12: 
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    In Situ
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    Orthologs
    for SLC25A12 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 animals.

    Orthologs for SLC25A12 gene from 5/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC25A121 solute carrier family 25 (mitochondrial carrier, Aralar), more 80.79(n)
    87.65(a)    		   431387  XM_428938.3  XP_428938.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC25A126
    		 --
    		 88(a)
    		 1 ↔ 1
    		 GL343353.1(650914-722426)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.35112 Danio rerio solute carrier family 25 (mitochondrial more 75.1(n)    BC057495.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta aralar11 , 3 transport carrier3
    CG2139-PA1    		 58(a)3
    59(n)1
    59.61(a)1    		   436161  NM_170485.21  NP_733364.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea K02F3.21 , 3 Protein K02F3.21 53(a)3
    56.54(n)1
    55.73(a)1    		   III(845852-850264)3
    1752421  NM_064873.31  NP_497274.21 


    ENSEMBL Gene Tree for SLC25A12 (if available)
    TreeFam Gene Tree for SLC25A12 (if available) 

    Paralogs
    for SLC25A12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC25A12 gene
    SLC25A132  SLC25A182  SLC25A442  SLC25A222  
    9 SIMAP similar genes for SLC25A12 using alignment to 5 protein entries:     CMC1_HUMAN (see all proteins):
    SLC25A13    SLC25A22    SLC25A18    SLC25A20    FLJ00351    SLC25A6
    LOC283130    SLC25A45    SLC25A21

    SLC25A12 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC25A12 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

    10/1754 NCBI SNPs in SLC25A12 are shown (see all 1754)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs134293671,2
    		H--164526084(+) TCACTC/TTGCGC 1 -- ut314Minor allele frequency- T:0.00NS EA 420
    rs174995441,2
    		C,F,H,--164526087(+) CTCTGC/TGCTAG 1 -- ut3119Minor allele frequency- T:0.08NA NS EA WA 2334
    rs1139656171,2
    		C,--164526443(+) ATGAAC/TAGAGG 1 -- ut310--------
    rs1999319481,2
    		C--164526578(+) TGTCTC/TGTTAT 1 -- ut310--------
    rs1134037511,2
    		C,--164526972(+) CCTGGA/GCAAAT 1 -- ut310--------
    rs785236321,2
    		C,--164527165(+) CCTTTG/TGCTGA 2 Q P mis10--------
    rs1120954501,2
    		C--164527339(+) GTTTGA/C/GTGTTG 1 -- spa11CSA 1
    rs1120901601,2
    		C--164527340(+) TTTGCA/G/TGTTGA 1 -- spa11CSA 1
    rs1124309571,2
    		--164527719(+) GTTTCG/CAACTT 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs18292801,2
    		H--164528120(+) tgggcG/Cccctt 1 -- int14Minor allele frequency- C:0.00NS EA 420

    HapMap Linkage Disequilibrium report for SLC25A12 (172639915 - 172864766 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC25A12: --
    Human Gene Mutation Database (HGMD): SLC25A12

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC25A12

    Disorders / Diseases
    for SLC25A12 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC25A12 for disorders           About GeneDecksing

    OMIM gene information: 603667   
    OMIM disorders: 612949  
    UniProtKB/Swiss-Prot: CMC1_HUMAN, O75746
  • Defects in SLC25A12 are the cause of global cerebral hypomyelination (GCHM) [MIM:612949]. A disorder with
    • onset in infancy and characterized by severe psychomotor retardation, hypotonia, seizures, hypomyelination of the
    central nervous system, with the gray matter appearing relatively unaffected

    7 diseases for SLC25A12:    About MalaCards
    global cerebral hypomyelination    cerebritis    autism spectrum disorder    citrullinemia
    hypotonia    schizophrenia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SLC25A12:
    Autistic disorder
    Genetic Association Database (GAD): SLC25A12
    Human Genome Epidemiology (HuGE) Navigator: SLC25A12 (14 documents)

    Export disorders for SLC25A12 gene to outside databases

    Publications
    for SLC25A12 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 SLC25A12 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with SLC25A12)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PubMed id 11566871)1, 2, 3, 9 Palmieri L....Palmieri F. (2001)
    2. Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. (PubMed id 9722566)1, 2, 3 Del Arco A. and Satrustegui J. (1998)
    3. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. (PubMed id 10702666)1, 3, 9 Crackower M.A....Scherer S.W. (1999)
    4. AGC1 deficiency associated with global cerebral hypom yelination. (PubMed id 19641205)1, 2, 9 Wibom R....Wedell A. (2009)
    5. Mitochondrial transporters as novel targets for intracellular calcium signaling. (PubMed id 17237342)1, 7 Satrustegui J....Del Arco A. (2007)
    6. Role of aralar, the mitochondrial transporter of aspartate-glutamate, in brain N-acetylaspartate formation and Ca(2+) signaling in neuronal mitochondria. (PubMed id 17497669)1, 7 SatrA_stegui J....Pardo B. (2007)
    7. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. (PubMed id 16205742)1, 4 Blasi F....Maestrini E. (2006)
    8. Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. (PubMed id 17151801)1, 7 Correia C....Vicente A.M. (2006)
    9. Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (PubMed id 15056512)1, 4 Ramoz N....Buxbaum J.D. (2004)
    10. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (PubMed id 10369257)1, 2 Kobayashi K.... Saheki T. (1999)

    External Searches for SLC25A12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing SLC25A12 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8604 HGNC: 10982 AceView: SLC25A12 Ensembl:ENSG00000115840 euGenes: HUgn8604
    ECgene: SLC25A12 H-InvDB: SLC25A12

    Other Databases showing SLC25A12 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC25A12 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 SLC25A12 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC25A12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC25A12 gene:
    Search GeneIP for patents involving SLC25A12

    GeneCards and IP:
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