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SLC25A13 Gene(Protein Coding)

Solute Carrier Family 25 Member 13

GCID:
GC07M096120
GIFtS:
51
Genes Participants
UDN Logo

Aliases for SLC25A13 Gene

Aliases for SLC25A13 Gene

  • Solute Carrier Family 25 Member 13 2 3 4 5
  • Mitochondrial Aspartate Glutamate Carrier 2 2 3 4
  • Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13 2 3
  • Calcium-Binding Mitochondrial Carrier Protein Aralar2 3 4
  • ARALAR2 3 4
  • Solute Carrier Family 25, Member 13 (Citrin) 2
  • CITRIN 3
  • Citrin 4
  • CTLN2 3

External Ids for SLC25A13 Gene

Previous HGNC Symbols for SLC25A13 Gene

  • CTLN2

Previous GeneCards Identifiers for SLC25A13 Gene

  • GC07M094284
  • GC07M095347
  • GC07M095361
  • GC07M095394
  • GC07M095587
  • GC07M095749
  • GC07M090357

Summaries for SLC25A13 Gene

Entrez Gene Summary for SLC25A13 Gene

  • This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

GeneCards Summary for SLC25A13 Gene

SLC25A13 (Solute Carrier Family 25 Member 13) is a Protein Coding gene. Diseases associated with SLC25A13 include Citrullinemia, Type Ii, Neonatal-Onset and Citrullinemia, Type Ii, Adult-Onset. Among its related pathways are Glucose metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include calcium ion binding and L-glutamate transmembrane transporter activity. An important paralog of this gene is SLC25A12.

UniProtKB/Swiss-Prot for SLC25A13 Gene

  • Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).

Additional gene information for SLC25A13 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A13 Gene

Genomics for SLC25A13 Gene

GeneHancer (GH) Regulatory Elements for SLC25A13 Gene

Promoters and enhancers for SLC25A13 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J096320 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 608.4 +0.8 847 3.8 HDGF ZNF652 SP1 ZFX ELF3 MNT CBFA2T2 ZNF148 NKRF POLR2A SLC25A13 ENSG00000275834
GH07J096284 Enhancer 1.1 FANTOM5 Ensembl ENCODE 20.4 +36.4 36446 5.4 MAFK CREM PRDM1 CREB1 ZNF316 EED ZSCAN5C RUNX3 JUNB BATF SLC25A13 MIR591 ENSG00000237551 RPL21P74 ENSG00000275834
GH07J096245 Enhancer 1.1 VISTA Ensembl 18.9 +75.0 74979 3.3 CEBPG TFE3 SP1 ZNF384 ZNF644 ZNF680 RXRA CEBPA GATAD2A POLR2A SLC25A13 MIR591 RPL21P74
GH07J096237 Enhancer 0.6 ENCODE 19.4 +83.8 83770 1 ZNF148 IKZF1 ZIC2 PKNOX1 NRF1 EP300 EGR1 ZNF766 MAFK DPF2 SLC25A13 MIR591 RPL21P74
GH07J096196 Enhancer 0.7 Ensembl 16.7 +123.7 123746 3.2 ZKSCAN8 CBFA2T2 TRIM24 SMARCA4 PKNOX1 DPF2 LEF1 EP300 SCRT2 SOX6 SLC25A13 GC07P096218 CYCSP18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC25A13 gene promoter:
  • AhR
  • Arnt
  • FOXO4
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT4
  • Pax-5
  • POU2F1
  • POU2F1a

Genomic Locations for SLC25A13 Gene

Genomic Locations for SLC25A13 Gene
chr7:96,120,220-96,322,147
(GRCh38/hg38)
Size:
201,928 bases
Orientation:
Minus strand
chr7:95,749,532-95,951,459
(GRCh37/hg19)
Size:
201,928 bases
Orientation:
Minus strand

Genomic View for SLC25A13 Gene

Genes around SLC25A13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A13 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC25A13 Gene

Proteins for SLC25A13 Gene

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  • Protein details for SLC25A13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJS0-CMC2_HUMAN
    Recommended name:
    Calcium-binding mitochondrial carrier protein Aralar2
    Protein Accession:
    Q9UJS0
    Secondary Accessions:
    • O14566
    • O14575
    • Q546F9
    • Q9NZW1
    • Q9UNI7

    Protein attributes for SLC25A13 Gene

    Size:
    675 amino acids
    Molecular mass:
    74176 Da
    Quaternary structure:
    • Homodimer (via N-terminus).
    Miscellaneous:
    • Binds to one calcium ion with high affinity.
    SequenceCaution:
    • Sequence=AAB67049.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAB70112.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SLC25A13 Gene

    Alternative splice isoforms for SLC25A13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A13 Gene

Protein Expression for SLC25A13 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC25A13 Gene

  • Ubiquitination at posLast=484484 and posLast=353353
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A13 Gene

Domains & Families for SLC25A13 Gene

Gene Families for SLC25A13 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SLC25A13 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC25A13 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 13 (CMC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UJS0

UniProtKB/Swiss-Prot:

CMC2_HUMAN :
  • Upon calcium binding, the EF-hand-containing regulatory N-terminal domain binds to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain (PubMed:25410934). In the absence of calcium, the helix loop domain may close the vestibule, which may prevent substrates from entering the carrier domain (By similarity).
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Domain:
  • Upon calcium binding, the EF-hand-containing regulatory N-terminal domain binds to the C-terminal domain, opening a vestibule which allows the substrates to be translocated through the carrier domain (PubMed:25410934). In the absence of calcium, the helix loop domain may close the vestibule, which may prevent substrates from entering the carrier domain (By similarity).
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A13: view

Function for SLC25A13 Gene

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Molecular function for SLC25A13 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane (PubMed:11566871, PubMed:25410934). May have a function in the urea cycle (PubMed:11566871).
GENATLAS Biochemistry:
solute carrier family 25,mitochondrial,predominantly expressed in liver

Phenotypes From GWAS Catalog for SLC25A13 Gene

Gene Ontology (GO) - Molecular Function for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IDA,IEA 11566871
GO:0005509 calcium ion binding IDA 10642534
GO:0015183 L-aspartate transmembrane transporter activity IBA,IDA 11566871
GO:0022857 transmembrane transporter activity IEA --
GO:0042802 identical protein binding IDA 25410934
genes like me logo Genes that share ontologies with SLC25A13: view
genes like me logo Genes that share phenotypes with SLC25A13: view

Human Phenotype Ontology for SLC25A13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A13 Gene

MGI Knock Outs for SLC25A13:

Animal Model Products

CRISPR Products

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No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A13 Gene

Localization for SLC25A13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A13 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A13 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
cytosol 2
peroxisome 1
nucleus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 10642534
GO:0005743 mitochondrial inner membrane TAS --
GO:0005887 integral component of plasma membrane NAS 10642534
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A13: view

Pathways & Interactions for SLC25A13 Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with SLC25A13: view

Pathways by source for SLC25A13 Gene

Gene Ontology (GO) - Biological Process for SLC25A13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006754 ATP biosynthetic process IDA 12851387
GO:0006839 mitochondrial transport NAS 10642534
GO:0006851 mitochondrial calcium ion transmembrane transport IEA --
GO:0015810 aspartate transmembrane transport IDA,IEA 11566871
genes like me logo Genes that share ontologies with SLC25A13: view

No data available for SIGNOR curated interactions for SLC25A13 Gene

Drugs & Compounds for SLC25A13 Gene

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(9) Drugs for SLC25A13 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Calcium Approved Nutra 7611

(5) Additional Compounds for SLC25A13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A13: view

Transcripts for SLC25A13 Gene

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mRNA/cDNA for SLC25A13 Gene

(2) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(163) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SLC25A13 Gene

Solute carrier family 25 (aspartate/glutamate carrier), member 13:
Representative Sequences:

CRISPR Products

Clone Products

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  • * SLC25A13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SLC25A13 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A13 Gene

No ASD Table

Relevant External Links for SLC25A13 Gene

GeneLoc Exon Structure for
SLC25A13
ECgene alternative splicing isoforms for
SLC25A13

Expression for SLC25A13 Gene

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  1. Primer
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GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC25A13 Gene

mRNA expression in normal human tissues for SLC25A13 Gene
mRNA expression by GTEx for SLC25A13 GenemRNA expression by BioGPS for SLC25A13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A13 Gene

This gene is overexpressed in Liver (x7.3).

Protein differential expression in normal tissues from HIPED for SLC25A13 Gene

This gene is overexpressed in Liver (10.7), Nasal epithelium (10.2), and Breast (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A13 Gene



Protein tissue co-expression partners for SLC25A13 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC25A13 Gene:

SLC25A13

SOURCE GeneReport for Unigene cluster for SLC25A13 Gene:

Hs.489190

mRNA Expression by UniProt/SwissProt for SLC25A13 Gene:

Q9UJS0-CMC2_HUMAN
Tissue specificity: High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.

Evidence on tissue expression from TISSUES for SLC25A13 Gene

  • Liver(4.6)
  • Nervous system(3.1)
  • Skin(2.5)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A13 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SLC25A13: view

Orthologs for SLC25A13 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SLC25A13 35 34
  • 99.85 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SLC25A13 35 34
  • 93.48 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SLC25A13 35 34
  • 92.01 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Slc25a13 17 35 34
  • 89 (n)
oppossum
(Monodelphis domestica)
 Mammalia SLC25A13 35
  • 71 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SLC25A13 35
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SLC25A13 35 34
  • 82.73 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SLC25A13 35
  • 89 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia slc25a13 34
  • 78.07 (n)
Str.2860 34
African clawed frog
(Xenopus laevis)
 Amphibia MGC69168 34
zebrafish
(Danio rerio)
 Actinopterygii slc25a13 35
  • 78 (a)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.273 34
fruit fly
(Drosophila melanogaster)
 Insecta aralar1 36 35
  • 58 (a)
worm
(Caenorhabditis elegans)
 Secernentea K02F3.2 36 35
  • 53 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AGC1 35 37
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 37 (a)
 OneToOne
Species where no ortholog for SLC25A13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A13 Gene

ENSEMBL:
Gene Tree for SLC25A13 (if available)
TreeFam:
Gene Tree for SLC25A13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A13: view image

Paralogs for SLC25A13 Gene

Paralogs for SLC25A13 Gene

(9) SIMAP similar genes for SLC25A13 Gene using alignment to 5 proteins:

  • CMC2_HUMAN
  • F5GX33_HUMAN
  • Q75KX8_HUMAN
  • Q75M55_HUMAN
  • R4GN64_HUMAN

Pseudogenes.org Pseudogenes for SLC25A13 Gene

genes like me logo Genes that share paralogs with SLC25A13: view

Variants for SLC25A13 Gene

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Sequence variations from dbSNP and Humsavar for SLC25A13 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1060499612 likely-pathogenic, Citrullinemia type II, Neonatal intrahepatic cholestasis caused by citrin deficiency 96,208,837(-) C/G splice_donor_variant
rs1131697 uncertain-significance, Citrullinemia type I, Citrin deficiency, - 96,208,885(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121908532 pathogenic, Citrullinemia type II 96,121,733(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs139149160 likely-pathogenic, uncertain-significance, Neonatal intrahepatic cholestasis caused by citrin deficiency, not specified 96,131,829(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs144877897 likely-benign, Citrin deficiency, Citrullinemia type I 96,121,016(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A13 Gene

Variant ID Type Subtype PubMed ID
esv1678533 CNV insertion 17803354
esv1986427 CNV deletion 18987734
esv2663788 CNV deletion 23128226
esv2734851 CNV deletion 23290073
esv3614208 CNV loss 21293372
nsv477757 CNV novel sequence insertion 20440878
nsv510101 OTHER sequence alteration 20534489
nsv970907 CNV duplication 23825009

Variation tolerance for SLC25A13 Gene

Residual Variation Intolerance Score: 7.03% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A13
Human Gene Mutation Database (HGMD)
SLC25A13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A13 Gene

Disorders for SLC25A13 Gene

MalaCards: The human disease database

(25) MalaCards diseases for SLC25A13 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
citrullinemia, type ii, neonatal-onset
  • citrin deficiency
citrullinemia, type ii, adult-onset
  • ctln2
cholestasis
  • bile occlusion
obstructive jaundice
  • cholestatic jaundice
argininosuccinic aciduria
  • argininosuccinase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CMC2_HUMAN
  • Citrullinemia 2 (CTLN2) [MIM:603471]: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. {ECO:0000269 PubMed:10369257, ECO:0000269 PubMed:10610724}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD) [MIM:605814]: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. {ECO:0000269 PubMed:11793471}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC25A13

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC25A13: view

No data available for Genatlas for SLC25A13 Gene

Publications for SLC25A13 Gene

  1. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. (PMID: 11793471) Yamaguchi N … Saheki T (Human mutation 2002) 3 4 23 45 58
  2. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. (PMID: 10369257) Kobayashi K … Saheki T (Nature genetics 1999) 2 3 4 23 58
  3. [Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. (PMID: 20376801) Xing YZ … Gu XF (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010) 3 23 45 58
  4. Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. (PMID: 20458766) Fu HY … Wang JS (World journal of gastroenterology 2010) 3 23 45 58
  5. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. (PMID: 16059747) Lu YB … Saheki T (Journal of human genetics 2005) 3 23 45 58

ExternalLinks

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