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anti-Mouse (Murine) slc25a13 Antibodies:
anti-Human slc25a13 Antibodies:
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hepatic metabolite perturbations in citrin-mitochondrial glycerol-3-phosphate dehydrogenase (show GPD1 Antibodies) double-knockout mice, a model of human citrin deficiency
The results support the notion that glial cells have much lower AGC (show ACAN Antibodies) levels and MAS (show MAS1 Antibodies) activity than neurons
Expression of the aspartate/glutamate (show GRIN1 Antibodies) mitochondrial carriers aralar1 (show Slc25a12 Antibodies) and citrin during development(CITRIN)
To investigate the physiological role of citrin and the development of CTLN2 (adult-onset type II citrullinemia (show ASS1 Antibodies)), an Slc25a13-knockout mouse model was created.
Aralar and citrin, when expressed as single isoforms in heart, confer differences in Ca(2 (show CA2 Antibodies)+) activation of shuttle activity, probably associated with their structural differences.
phenotypic analysis of citrin/mitochondrial glycerol-3-phosphate dehydrogenase (show GPD1 Antibodies) double knock-out mice
There was a correlation between SLC25A13 gene mutations distribution and the GGT (show GGT1 Antibodies) level in infants with neonatal intrahepatic cholestasis caused by citrin deficiency
All neonates have harbored mutations of the solute carrier (show SERTAD2 Antibodies) family 25, member 13 protein (SLC25A13) gene, suggesting the SLC25A13 gene probably underlie the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
These findings enriched the SLC25A13 mutation spectrum and brought new insights into the geographic distribution of the variations and genotypes, providing reliable evidences for Neonatal intrahepatic cholestasis caused by citrin deficiency definite diagnosis and for the determination of relevant molecular targets in different Chinese areas.
Upregulation of GLUD1 (show GLUD1 Antibodies) and SLC25A13 was associated with tumor aggressiveness and poorer prognosis in colorectal cancer patients.
The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23]
The features of AGC1 (show ACAN Antibodies) structure and function in physiology and pathology, regulation by calcium, and dependency on mitochondrial membrane potential are reviewed. Review.
the present study reported on clinical and molecular investigations of an infant with NICCD, who was confirmed to be a compound heterozygote of the c.851_854del4 mutation and a novel large deletion c.1019_1177+893del in the SLC25A13 gene.
The large deletion enriched the SLC25A13 mutation spectrum, and its identification supported the concept that cDNA cloning analysis, along with other molecular tools such as semiquantitative PCR, could provide valuable clues, facilitating the identification of obscure SLC25A13 deletions.
Data indicate that the patient was a compound heterozygote carrying c.851_854delGTAT and IVS16ins3kb mutations of the mitochondrial carrier (show UCP3 Antibodies) citrin protein (SLC25A13) gene, which were respectively inherited from his mother and father.
This study aims to screen for five prevalent SLC25A13 mutations, to calculate the mutation carrier rate in Guangdong.
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.
solute carrier family 25, member 13 (citrin)
, calcium-binding mitochondrial carrier protein Aralar2
, solute carrier family 25, member 13
, calcium-binding mitochondrial carrier protein Aralar2-like
, solute carrier family 25 (aspartate/glutamate carrier), member 13 tv2
, mitochondrial aspartate glutamate carrier 2
, solute carrier family 25 member 13
, solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13
, solute carrier family 25 (aspartate/glutamate carrier), member 13