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The role of the neutral amino acid transporter B 0 AT1 (SLC6A19) in Hartnup disorder and protein nutrition
Author(s) -
Bröer Stefan
Publication year - 2009
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1002/iub.210
Subject(s) - amino acid , aminoaciduria , renin–angiotensin system , chemistry , biology , medicine , endocrinology , biochemistry , blood pressure
Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo‐sensitive skin‐rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B 0 AT1 (SLC6A19)1. To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensin‐converting enzyme 2 for surface expression in the kidney and intestine, respectively. This ties SLC6A19 together with more complex functions such as blood‐pressure control, glomerular structure, and exocytosis. © 2009 IUBMB IUBMB Life, 61(6): 591–599, 2009