SLC25A1 Antibody

1. SLC25A1 and ACLY upregulation suggests that metabolic reprogramming in Behcet's syndrome involves the citrate pathway dysregulation. PMID: 30050389
2. tested the expression specificity of the Cochlin-tomoprotein by testing blood and CSF samples. The concentration was below the detection limit (0.2 ng/ml) in 38 of the 40 blood, and 14 of the 19 CSF samples PMID: 29377917
3. Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis. PMID: 29031613
4. this study shows increased expression of SLC25A1 gene in cells from children with Down syndrome PMID: 27502741
5. Altered metabolism in 22qDS reflected a critical role for the haploinsufficiency of the mitochondrial citrate transporter SLC25A1, further enhanced by HIF-1alpha, MYC, and metabolite controls. PMID: 26221035
6. we report for the first time on a patient with a genetically confirmed diagnosis of SLC25A1 deficiency and treatment with either malate or citrate PMID: 24687295
7. SLC25A1 has a key role in TNF-alpha and IFNgamma induced inflammation and is induced at the transcriptional level by these two inflammation mediators cytokines. PMID: 25072865
8. We report for the first time a patient with a mitochondrial citrate carrier deficiency. Our data support a role for citric acid cycle defects in agenesis of corpus callosum PMID: 23393310
9. Compares and contrasts all the known human SLC25A* genes and includes functional information. PMID: 23266187
10. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. PMID: 23561848
11. The mitochondrial citrate carrier (CIC) is present and regulates insulin secretion by human male gamete. PMID: 22355067
12. muscular symptoms of CTP deficiency respond to creatine supplementation PMID: 21660517
13. The mitochondrial citrate carrier: a new player in inflammation PMID: 21787310
14. The results of molecular cloning of a citrate transporter from human normal prostate epithelial PNT2-C2 cells, is reported. PMID: 20448665
15. Results suggest an evolutionary conserved role for Sea/SLC25A1 in the regulation of chromosome integrity. PMID: 19654186
16. These results show that methylation, histone acetylation and Sp1 are important in the transcriptional regulation of the CIC proximal promoter. PMID: 18706393
17. These results show that FOXA plays a role in the transcriptional regulation of CIC and in insulin secretion. PMID: 19445897
18. CIC silencer activity extends over 26 bp (-595/-569), which specifically bind a protein ZNF224 present in HepG2 cell nuclear extracts. PMID: 19505435

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HGNC: 10979

OMIM: 190315

KEGG: hsa:6576

STRING: 9606.ENSP00000215882

UniGene: Hs.111024