SLC6A19 cotransports neutral amino acids, Na+ from extracellular region to cytosol

Stable Identifier
R-HSA-375473
Type
Reaction
Species
Homo sapiens
Compartment
Synonyms
SLC6A19-mediated uptake of neutral amino acids
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SLC6A19 mediates the uptake of neutral amino acids across the plasma membrane. Uptake of an amino acid molecule is accompanied by uptake of a sodium ion. The protein is abundant in cells in the small intestine and kidney. Its deficiency is associated with Hartnup disorder, the failure to take up neutral amino acids efficiently from the gut lumen and to reabsorb them in the proximal kidney tubule (Kleta et al. 2004, Seow et al. 2004).

Literature References
PubMed ID Title Journal Year
15286787 Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Kleta, R, Romeo, E, Ristic, Z, Ohura, T, Stuart, C, Arcos-Burgos, M, Dave, MH, Wagner, CA, Camargo, SR, Inoue, S, Matsuura, N, Helip-Wooley, A, Bockenhauer, D, Warth, R, Bernardini, I, Visser, G, Eggermann, T, Lee, P, Chairoungdua, A, Jutabha, P, Babu, E, Nilwarangkoon, S, Anzai, N, Kanai, Y, Verrey, F, Gahl, WA, Koizumi, A

Nat Genet 2004
15286788 Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19

Seow, HF, Broer, S, Broer, A, Bailey, CG, Potter, SJ, Cavanaugh, JA, Rasko, JE

Nat Genet 2004
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
amino acid transmembrane transporter activity of SLC6A19 [plasma membrane]
Physical Entity
Activity
Orthologous Events
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