The molecular basis of neutral aminoacidurias.

Abstract

Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. Hartnup disorder is caused by mutations in the neutral amino acid transporter B(0) AT1 (SLC6A19). The transporter is found in kidney and intestine, where it is involved in the resorption of all neutral amino acids. The molecular defect underlying Iminoglycinuria has not yet been identified. However, two transporters, the proton amino acid transporter PAT1 (SLC36A1) and the IMINO transporter (SLC6A20) appear to play key roles in the resorption of glycine and proline. A model is presented, involving all three transporters that can explain the phenotypic variability of iminoglycinuria.

• Authors: Angelika Bröer, Juleen A Cavanaugh, John E J Rasko, Stefan Bröer
• Journal: Pflugers Archiv : European journal of physiology (Pflugers Arch) Vol. 451 Issue 4 Pg. 511-7 (Jan 2006) ISSN: 0031-6768 [Print] Germany
• PMID: 16052352 (Publication Type: Journal Article, Review)

Chemical References

• Amino Acid Transport Systems, Neutral
• Amino Acids, Neutral

Topics

• Amino Acid Transport Systems, Neutral (genetics, metabolism)
• Amino Acids, Neutral (metabolism)
• Humans
• Intestinal Mucosa (metabolism)
• Kidney (metabolism)
• Renal Aminoacidurias (metabolism)