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Citrin and aralar1 are Ca(2+)-stimulated aspartate/ glutamate transporters in mitochondria. Paper-9067706.
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. Paper-12245900.
Citrin and aralar1 are homologous proteins belonging to the mitochondrial carrier family with EF-hand Ca(2+)-binding motifs in their N-terminal domains. Paper-9067706.
However, gene-by-gene interaction analysis conducted using the MDR approach revealed a significant interactive genetic effect of ASS1 (rs666174) and SLC25A13 (rs10252573) on the occurrence of clefting (p=0.002). Paper-15428105.
Although so far 14 CTLN2 patients with hepatocellular carcinoma have been reported, this report describes a unique case of liver carcinoma showing the features of both hepatocellular and cholangiocellular carcinoma. Paper-12938803.
These results demonstrate that citrin and aralar1 are isoforms of the hitherto unidentified aspartate/ glutamate carrier and explain why mutations in citrin cause type II citrullinemia in humans. Paper-9067706.
CONCLUSIONS: Patients presenting with non-alcoholic fatty liver unrelated to obesity and metabolic syndrome might have citrin deficiency, and serum PSTI may be a useful indicator for distinguishing this from conventional NAFLD. Paper-13041665.
The activity of citrin and aralar1 as aspartate/ glutamate exchangers was stimulated by Ca(2+) on the external side of the inner mitochondrial membrane, where the Ca(2+)-binding domains of these proteins are localized. Paper-9067706.
CTLN2 is associated with a high incidence of hepatocellular carcinoma ( HCC) in Japanese. We report a 48-year-old Taiwanese man with citrullinemia, who was in good health until the age of 34 when he had repeated episodes of consciousness disturbance. Paper-12245900.
DESIGN: PCR-RFLP and HRM analyses were used to analyze single nucleotide polymorphisms ( SNPs) of ASS1, ASL, and SLC25A13 in 172 children with non-syndromic cleft lip with or without cleft palate (CL/ P) and 188 controls without congenital anomalies. Paper-15428105.
Citrin deficiency-associated fatty livers showed a considerably lower prevalence of accompanying obesity and metabolic syndrome, higher prevalence of history of pancreatitis, and higher serum levels of pancreatic secretory trypsin inhibitor ( PSTI) than fatty livers without the mutations. Paper-13041665.
These synonyms are used for gene SLC25A13 (solute carrier family 25, member 13 (citrin)): Solute carrier family 25 member 13, Mitochondrial aspartate glutamate carrier 2, CTLN2, CITRIN, Citrin, Calcium-binding mitochondrial carrier protein Aralar2, ARALAR2.
These accession numbers are used for gene SLC25A13: Q9NZW1 (UNIPROT__AC), O14566 (UNIPROT__AC), DA696723 (NCBI_GENBANK__AC), BC006566 (NCBI_GENBANK__AC).
SLC25A13 is a homologue of SLC25A13 (solute carrier family 25, member 13 (citrin)) from Pan troglodytes.
SLC25A13 is a homologue of SLC25A13 (solute carrier family 25, member 13 (citrin)) from Canis lupus familiaris.
SLC25A13 is a homologue of SLC25A13 (solute carrier family 25, member 13 (citrin)) from Bos taurus.
SLC25A13 is a homologue of SLC25A13 (solute carrier family 25, member 13 (citrin)) from Gallus gallus.
SLC25A13 is a homologue of Slc25a13 (solute carrier family 25 (mitochondrial carrier, adenine nucleotide...) from Mus musculus.
SLC25A13 is a homologue of Slc25a13 (solute carrier family 25, member 13 (citrin)) from Rattus norvegicus.
Important links !
iHOP - Information Hyperlinked over Proteins .
Concept & Implementation by Robert Hoffmann.