The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition

✍ Scribed by Stefan Bröer

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 307 KB
• Volume: 61
• Category: Article
• ISSN: 1521-6543
• DOI: 10.1002/iub.210

✦ Synopsis

Abstract

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