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
extracellular region, plasma membrane
ReviewStatus
5/5
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Defective SLC6A19 does not cotransport neutral amino acids, Na+ from extracellular region to cytosol
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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
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
20399395 Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder

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

Pediatr. Neurol. 2010
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
Participants
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Participates
as an event of
Catalyst Activity

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

Physical Entity
SLC6A19 mutants [plasma membrane] (Homo sapiens)
Activity
amino acid transmembrane transporter activity (GO:0015171)
Normal reaction
SLC6A19 cotransports neutral amino acids, Na+ from extracellular region to cytosol (Homo sapiens)
Functional status

Loss of function of SLC6A19 mutants [plasma membrane]

Normal Entity
Disease Entity
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
Authored
Jassal, B  (2014-12-23)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-12-23)
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