Author: Bröer, Stefan
Title: The role of the neutral amino acid transporter B(0)AT1 (SLC6A19) in Hartnup disorder and protein nutrition Cord-id: o9m9haxe Document date: 2009_5_26
ID: o9m9haxe
Snippet: 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 photoâ€sensitive skinâ€rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B(0)AT1 (SLC6A19). To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensinâ€converting enzyme 2 for surface expres
Document: 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 photoâ€sensitive skinâ€rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino acid transporter B(0)AT1 (SLC6A19). To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensinâ€converting enzyme 2 for surface expression in the kidney and intestine, respectively. This ties SLC6A19 together with more complex functions such as bloodâ€pressure control, glomerular structure, and exocytosis. © 2009 IUBMB IUBMB Life, 61(6): 591–599, 2009
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