SLC13A5 Antibody, HRP conjugated

1. SLC13A5 is the second major gene associated with the clinical diagnosis of KTZS. PMID: 27600704
2. Data suggest that SLC13A5 plays a role in progression/cell proliferation of human hepatocellular carcinoma cells; here, RNA interference using shRNA against SLC13A5 decreased tumor burden in treatment of hepatocarcinoma in a xenograft tumor model in nude mice. PMID: 28655760
3. Data suggest that SLC13A5 plays a role in progression/proliferation of human hepatocellular carcinoma cells; RNA interference using shRNA against SLC13A5 decreased tumor burden in treatment of hepatocarcinoma in a xenograft tumor model in nude mice. [REVIEW] PMID: 28821606
4. Study identified additional SLC13A5 mutations in patients with chronic epilepsy starting in the neonatal period, with the mutations producing inactive Na+/citrate transporters. PMID: 27261973
5. Studies show that SLC13A5 is a transporter in the plasma membrane that mediates the uptake of citrate into cells. It is expressed in hepatocytes, neurons, and spermatozoa. Its loss-of-function mutations are associated with neonatal epilepsy in humans. This is a single-gene disease with epilepsy resulting solely from the inactivity of SLC13A5. [review] PMID: 28264506
6. In infants presenting with therapy resistant seizures in the first days after birth, without a clear history of hypoxic-ischemic encephalopathy, but with Punctate White Matter Lesions on their neonatal MRI, a diagnosis of SCL13A5 related epileptic encephalopathy should be considered. PMID: 27913086
7. Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5). PMID: 26620127
8. Eight patients from four families with SLC13A5 mutation are described. They have neonatal epilepsy, tooth hypoplasia, and developmental delay. PMID: 26384929
9. SLC13A5 is a novel target gene of PXR and may contribute to drug-induced steatosis and metabolic disorders in humans. PMID: 25628225
10. Screening of 68 additional unrelated individuals with early-onset epileptic encephalopathy for SLC13A5 mutations led to identification of one additional subject with heterozygous mutations of SLC13A5 and a similar clinical presentation as index subjects PMID: 24995870
11. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
12. This paper describes the cloning and functional characterization of the human Na(+)-coupled citrate transporter (NaCT). PMID: 12445824
13. mediates the utilization of extracellular citrate for fat synthesis in human liver cells, and that the process is stimulated by lithium PMID: 12826022
14. Expression and function of NaCT in a cell line and in primary hepatocytes. PMID: 16973915

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HGNC: 23089

OMIM: 608305

KEGG: hsa:284111

STRING: 9606.ENSP00000406220

UniGene: Hs.399496