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

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

Stable Identifier

R-HSA-375473

Type

Reaction [transition]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

SLC6A19-mediated uptake of neutral amino acids

ReviewStatus

5/5

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

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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
15286788	Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19 Bailey, CG, Broer, A, Potter, SJ, Rasko, JE, Cavanaugh, JA, Seow, HF, Broer, S	Nat Genet	2004
15286787	Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder Chairoungdua, A, Warth, R, Matsuura, N, Camargo, SR, Ohura, T, Ristic, Z, Kleta, R, Helip-Wooley, A, Nilwarangkoon, S, Verrey, F, Visser, G, Jutabha, P, Anzai, N, Eggermann, T, Arcos-Burgos, M, Bernardini, I, Wagner, CA, Koizumi, A, Babu, E, Bockenhauer, D, Inoue, S, Romeo, E, Kanai, Y, Gahl, WA, Lee, P, Stuart, C, Dave, MH	Nat Genet	2004