Recombinant Human Calcium-binding mitochondrial carrier protein Aralar2 (SLC25A13)

1. There was a correlation between SLC25A13 gene mutations distribution and the GGT level in infants with neonatal intrahepatic cholestasis caused by citrin deficiency PMID: 28516797
2. All neonates have harbored mutations of the solute carrier family 25, member 13 protein (SLC25A13) gene, suggesting the SLC25A13 gene probably underlie the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). PMID: 29419856
3. 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. PMID: 27405544
4. Upregulation of GLUD1 and SLC25A13 was associated with tumor aggressiveness and poorer prognosis in colorectal cancer patients. PMID: 27924922
5. 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] PMID: 28981931
6. The features of AGC1 structure and function in physiology and pathology, regulation by calcium, and dependency on mitochondrial membrane potential are reviewed. Review. PMID: 27132995
7. 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. PMID: 27779681
8. 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. PMID: 27127784
9. Data indicate that the patient was a compound heterozygote carrying c.851_854delGTAT and IVS16ins3kb mutations of the mitochondrial carrier citrin protein (SLC25A13) gene, which were respectively inherited from his mother and father. PMID: 27577219
10. Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation. PMID: 25410934
11. This study aims to screen for five prevalent SLC25A13 mutations, to calculate the mutation carrier rate in Guangdong. PMID: 25110155
12. we reviewed the English literature on mutations in the SLC25A13 gene, and its genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia--{REVIEW} PMID: 24508627
13. Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel. PMID: 25365849
14. Point mutation of ASS1, ASL and SLC25A13 is associated with citrullinemia. PMID: 24927999
15. Identification of novel SLC25A13 gene mutations in East Asian patients with citrin deficiency. PMID: 24069319
16. Analysis of the SLC25A13 gene sequence. PMID: 23053473
17. Report frequency SLC25A13 mutations in the Thai population and estimate prevalence of citrin deficiency. PMID: 24282362
18. The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis. PMID: 23901231
19. The first two cases of NICCD are described in infants from the UK, one of Caucasian and one of Pakistani origin. PMID: 19517266
20. Compares and contrasts all the known human SLC25A* genes and includes functional information. PMID: 23266187
21. The objectives were to study the prevalence of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants with idiopathic cholestasis, mutation spectrum of SLC25A13 in Thai NICCD, and comparison of clinical manifestations and blood chemistry between NICCD and non-NICCD infants. PMID: 23067347
22. uncovered the marked transcript diversity of SLC25A13 gene in human PBLs, and suggested that cDNA cloning analysis of this gene in human PBLs might be a feasible tool for CD molecular diagno PMID: 23022256
23. Mutations in SLC25A13 are associated with citrin deficiency. PMID: 22277121
24. In 171 suspected patients, seven neonatal intrahepatic cholestasis caused by citrin deficiency patients were detected by HRM. PMID: 22487826
25. Functional studies, carried out on the recombinant mutant protein containing glutamate at position 437, demonstrated that neonatal intrahepatic cholestasis caused by citrin deficiency is caused by a reduced transport activity of SLC25A13 PMID: 21914561
26. Case Report: suggest that the administration of arginine and sodium pyruvate with low-carbohydrate meals may be an effective therapy in patients with citrin deficiency. PMID: 18958581
27. individuals with non-viral HCC were more likely to possess SLC25A13 gene mutations compared to healthy subjects PMID: 21470889
28. this study expanded the genotypic and phenotypic spectrum of citrin deficiency. PMID: 21424115
29. SLC25A13 gene mutations play an important role in Chinese infants with intrahepatic cholestasis and various forms of aminoacidemia; 851del4 and 1638ins23 are the most common mutation types PMID: 20927635
30. Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified PMID: 21507300
31. The SLC25A13 mutations may not be a major contributor to the pathogenesis of hepatocellular carcinoma in Taiwan. PMID: 21134364
32. MDR analysis provided evidence of interaction between the genes for ASS1 and SLC25A13 on the risk of CL/P. PMID: 20739017
33. Four hundred infants with unexplained intrahepatic cholestasis from 18 China were studied for detecting SLC25A13 gene mutation 851del4. Eight homozygous and 30 heterozygous mutations were detected in 46 mutant alleles with a 851del4 mutation rate of 5.8%. PMID: 20458766
34. We report three unrelated Malay children with genetically confirmed neonatal intrahepatic cholestatic caused by citrin deficiency characterised by an insertion mutation IVS16ins3kb in SLC25A13 gene PMID: 20614727
35. SLC25A13 gene mutations exist in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids. PMID: 18578996
36. The historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient subjects, and carbohydrate toxicity in relation to ureogenesis, is described. PMID: 20233664
37. The 851del4, 1638ins23 and IVS6+5G>A mutations are the hot-spot mutations in Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency. PMID: 20376801
38. genetic screening of 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
39. Adult-onset type II citrullinemia is caused by mutations of the SLC25A13 gene PMID: 12111366
40. Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. PMID: 17000460
41. Analysis of citrin protein in peripheral blood lymphocytes is useful to diagnose citrin deficiency in patients without known mutations or hypercitrullinemia. PMID: 17092749
42. This report describes the clinical characteristics, biochemical findings and molecular analysis of the SLC25A13 gene of patients with citrin deficiency in Korea. PMID: 17982687
43. report 13 novel SLC25A13 mutations (one insertion, two deletion, three splice site, two nonsense, and five missense) in patients with citrin deficiency from Japan, Israel, UK, and Czech Republic PMID: 18392553
44. Patients presenting with non-alcoholic fatty liver unrelated to obesity and metabolic syndrome might have citrin deficiency, caused by SLC25A13 gene mutations. PMID: 18620775
45. 5 novel mutations were found in SLC25A13 from three unrelated French-Canadian Citrin deficiency patients. PMID: 19036621
46. Results of this study showed, even during the silent period, sustained hypercitrullinemia, hypercholesterolemia, and augmented oxidative stress in children with citrin deficiency. PMID: 19232506
47. 851del4/1638ins23 mutations in a Chinese adult onset type II citrullinaemia patient PMID: 11432966

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HGNC: 10983

OMIM: 603471

KEGG: hsa:10165

STRING: 9606.ENSP00000400101

UniGene: Hs.489190