The molecular basis of neutral aminoacidurias.

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Broer A, Cavanaugh JA, Rasko JE, Broer S

The molecular basis of neutral aminoacidurias.

Pflugers Arch. 2006 Jan;451(4):511-7. Epub 2005 Jul 29.

PubMed ID

16052352 [ View in PubMed

]

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.

DrugBank Data that Cites this Article

Drug Transporters

Drug	Transporter	Kind	Organism	Pharmacological Action	Actions
Glycine	Proton-coupled amino acid transporter 1	Protein	Humans	Unknown	Substrate	Details