Defective SLC6A19 does not cotransport neutral amino acids, Na+ from extracellular region to cytosol

Stable Identifier
R-HSA-5659734
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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SLC6A19 encodes the sodium-dependent neutral amino acid transporter B(0)AT1 and mediates the uptake of neutral amino acids across the plasma membrane accompanied by uptake of a sodium ion. The protein is abundantly expressed in the small intestine and kidney. Defects in SLC6A19 can cause Hartnup disorder (HND; MIM:234500), an autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport characterised by increased urinary and intestinal excretion of neutral amino acids. Symptoms include transient manifestations of rashes, cerebellar ataxia and psychotic behaviour. Mutations causing HND include D173N, R240*, V295Afs*57, S303L and I596Hfs*73 (Seow et al. 2004, Kleta et al. 2004, Cheon et al. 2010).

Literature References
PubMed ID Title Journal Year
20399395 Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder

Cheon, CK, Lee, BH, Ko, JM, Kim, HJ, Yoo, HW

Pediatr. Neurol. 2010
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
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
Participants
Participates
Catalyst Activity

amino acid transmembrane transporter activity of SLC6A19 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC6A19 mutants [plasma membrane]

Status
Disease
Name Identifier Synonyms
Hartnup disease DOID:1060 neutral amino acid transport defect, Neutral 1 amino acid transport defect (disorder), deficiency of tryptophan oxygenase
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