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SLC25A13

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.
Full Name
Solute Carrier Family 25 Member 13
Function
Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871).
Also mediates the uptake of L-cysteinesulfinate by mitochondria in exchange of L-glutamate and proton. Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton translocation (PubMed:11566871).
Biological Process
Biological Process aspartate family amino acid metabolic processTAS:Reactome
Biological Process aspartate transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process ATP biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cellular respirationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process gluconeogenesisTAS:Reactome
Biological Process L-glutamate transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process malate-aspartate shuttleManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process mitochondrial transport1 PublicationNAS:UniProtKB
Biological Process response to calcium ionManual Assertion Based On ExperimentIDA:UniProtKB
Cellular Location
Mitochondrion inner membrane
Involvement in disease
Citrullinemia 2 (CTLN2):
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.
Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD):
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.
Topology
Mitochondrial intermembrane: 2-331
Helical: 332-349
Mitochondrial matrix: 350-392
Helical: 393-412
Mitochondrial intermembrane: 413-435
Helical: 436-449
Mitochondrial matrix: 450-484
Helical: 485-504
Mitochondrial intermembrane: 505-523
Helical: 524-541
Mitochondrial matrix: 542-580
Helical: 581-600
Mitochondrial intermembrane: 601-675

Anti-SLC25A13 antibodies

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Target: SLC25A13
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: CBXS-3226
Application*: E, IF, WB
Target: SLC25A13
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CBXS-1651
Application*: WB
Target: SLC25A13
Host: Rabbit
Antibody Isotype: IgG
Specificity: Mouse, Rat, Human
Clone: CBXS-1650
Application*: WB, P
Target: SLC25A13
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: BA0384
Application*: WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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