The role of amino acid transporters in inherited and acquired diseases

Date

2011

Authors

Broer, Stefan
Palacin, Manuel

Journal Title

Journal ISSN

Volume Title

Publisher

Portland Press

Abstract

Amino acids are essential building blocks of all mammalian cells. In addition to their role in protein synthesis, amino acids play an important role as energy fuels, precursors for a variety of metabolites and as signalling molecules. Disorders associated with the malfunction of amino acid transporters reflect the variety of roles that they fulfil in human physiology. Mutations of brain amino acid transporters affect neuronal excitability. Mutations of renal and intestinal amino acid transporters affect whole-body homoeostasis, resulting in malabsorption and renal problems. Amino acid transporters that are integral parts of metabolic pathways reduce the function of these pathways. Finally, amino acid uptake is essential for cell growth, thereby explaining their role in tumour progression. The present review summarizes the involvement of amino acid transporters in these roles as illustrated by diseases resulting from transporter malfunction.

Description

Keywords

Keywords: amino acid transporter; excitatory amino acid transporter 1; excitatory amino acid transporter 3; glycine transporter 1; glycine transporter 2; protein cystinosin; protein SLC1A5; protein SLC25A12; protein SLC25A13; protein SLC25A15; protein SLC25A22; pro Aminoaciduria; Cancer metabolism; Epithelial transport; Mitochondrion; Neurotransmitter; Urea cycle disorder

Citation

Source

Biochemical Journal

Type

Journal article

Book Title

Entity type

Access Statement

License Rights

DOI

10.1042/BJ20101912

Restricted until

2037-12-31