Defective SLC6A19 causes Hartnup disorder (HND)

Stable Identifier
R-HSA-5659735
Type
Pathway
Species
Homo sapiens
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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 (Broer & Gether 2012, Schweikhard & Ziegler 2012). 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 (Broer 2009, Cheon et al. 2010). Some mutations in SLC6A19 are thought to contribute to the phenotypes iminoglycinuria (IG; MIM:242600) and hyperglycinuria (HG; MIM:138500) (Broer et al. 2008).

Literature References
PubMed ID Title Journal Year
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
19472175 The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition

Broer, S

IUBMB Life 2009
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
Participants
Participant Of
Disease
Name Identifier Synonyms
Hartnup disease 1060 neutral amino acid transport defect, Neutral 1 amino acid transport defect (disorder), deficiency of tryptophan oxygenase
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