SLC25A20 Antibody

1. we report the first 2 cases of CACTD identified from the mainland China. Apart from a founder mutation c.199-10T>G, we have identified a novel c.1A>G mutation. Patients with Carnitine-acylcarnitine translocase deficiency with a genotype of c.199-10T>G mutation usually presents with a severe clinical phenotype. Early recognition and appropriate treatment is crucial in this highly lethal disorder. PMID: 29137068
2. We provide evidence that the downregulation of hsa-miR-124-3p, hsa-miR-129-5p and hsa-miR-378 induced an increase in both expression and activity of CPT1A, CACT and CrAT in malignant prostate cells. PMID: 28671672
3. The antiport mode of transport, typical of mitochondrial carriers such as CAC, results from coupling of uniport reactions in opposite directions mediated by specific amino acid residues. PMID: 25325845
4. C.576G>A, c.106-2a>t and c.516T>C are novel CACT gene mutations. PMID: 24088670
5. CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders. PMID: 23322164
6. Compares and contrasts all the known human SLC25A* genes and includes functional information. PMID: 23266187
7. Results show Steroid Receptor Coactivator-3 (SRC-3) plays a central role in long chain fatty acid metabolism by directly regulating carnitine/acyl-carnitine translocase (CACT) gene expression. PMID: 22560224
8. These results show that FOXA and Sp1 sites in HepG2 cells and only the Sp1 site in HEK293 and SK-N-SH cells have a critical role in the transcriptional regulation of the CAC proximal promoter. PMID: 21130740
9. A deficiency in CACT was treated with a carnitine diet and administration of medium-chain triglycerides. PMID: 15057979
10. The clinical, biochemical, & molecular features of 6 CACT-deficient patients from Italy, Spain, & North America who had significant clinical heterogeneity are reported. 5 novel & 3 previously reported mutations were found. PMID: 15365988
11. The modulation of CACT expression has consequences for CPT 1 activity, while the biologic effects of acetyl-carnitine are not associated with a generic supply of energy compounds but to the anaplerotic property of the molecule. PMID: 15515015
12. Report the outcome of two siblings with CACT deficiency. PMID: 17508264
13. Functional analysis of mutations of residues Pro278 and Ala279 in A. nidulans, together with kinetic data in reconstituted liposomes, suggest a predominant structural role for these amino acids. PMID: 18307102
14. PPARalpha regulates the expression of human SLC25A20 via the peroxisome proliferator responsive element. PMID: 19748481

Show More

Hide All

HGNC: 1421

OMIM: 212138

KEGG: hsa:788

STRING: 9606.ENSP00000326305

UniGene: Hs.13845