RecName: Full=Sodium-dependent neutral amino acid transporter B(0)AT1; - Protein

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A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function. [Exp Neurol. 2019]
A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.
Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, Liang HC, Li XJ, Zhu HX, Yi YH, et al. Exp Neurol. 2019 Oct; 320:112973. Epub 2019 Jun 6.
Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve. [Cell Physiol Biochem. 2012]
Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve.
Bogatikov E, Munoz C, Pakladok T, Alesutan I, Shojaiefard M, Seebohm G, Föller M, Palmada M, Böhmer C, Bröer S, et al. Cell Physiol Biochem. 2012; 30(6):1538-46. Epub 2012 Dec 10.
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. [Pediatr Neurol. 2010]
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Pediatr Neurol. 2010 May; 42(5):369-71.

RefSeq genomic sequence
See the genomic reference sequence for the SLC6A19 gene (NG_008282.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the SLC6A19 gene.

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Q695T7 [Domain Mapping of Disease Mut...]
Q695T7
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Sodium-dependent neutral amino acid transporter B(0)AT1; AltName: ...
RecName: Full=Sodium-dependent neutral amino acid transporter B(0)AT1; AltName: Full=Solute carrier family 6 member 19; AltName: Full=System B(0) neutral amino acid transporter AT1
gi|73919285|sp|Q695T7.1|S6A19_HUMAN

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