SLC1A4 Antibody

1. Results suggest that ASCT1/2 may play an important role in regulating extracellular d-serine and NMDA receptor-mediated physiological effects and that ASCT1/2 inhibitors have the potential for therapeutic benefit. PMID: 28807674
2. ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters PMID: 27909246
3. SLC1A4 deficiency should not be considered a population-specific disorder, and all patients with unexplained severe neurodevelopmental delay and the features outlined should be investigated regardless of ethnicity, as there are no known metabolic markers of this potentially treatable condition. PMID: 27193218
4. SLC1A4 is the disease causing gene of a novel neurologic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin corpus callosum. PMID: 26138499
5. ASCT1 is essential in brain serine transport. PMID: 26041762
6. SLC1A4 disruption may impair brain development and function by decreasing the levels of L-serine in neurons. The identification of additional families with mutations in SLC1A4 would be necessary to confirm its involvement in intellectual disability. PMID: 25930971
7. Na+ interactions with the neutral amino acid transporter ASCT1. PMID: 24808181
8. ASCT1 is able to mediate a concentrative transport of alanine, which is Na+-dependent but not coupled to the Na+ gradient PMID: 11824937
9. used as receptor by HERV-W Env glycoprotein PMID: 12050356
10. results strongly suggest that combinations of amino acid sequence changes and N-linked oligosaccharides in a critical carboxyl-terminal region of extracellular loop 2 (ECL2) control retroviral utilization of both the ASCT1 and ASCT2 receptors PMID: 12584318
11. This study revealed genetic associations of SLC1A4, SQSTM1, and EIF4EBP1 with MSA. These results may lend genetic support to the hypothesis that oxidative stress is associated with the pathogenesis of MSA. PMID: 18442140
12. SLC1A4 gene is associated with schizophrenia. PMID: 18638388

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HGNC: 10942

OMIM: 600229

KEGG: hsa:6509

STRING: 9606.ENSP00000234256

UniGene: Hs.654352