Amino Acid Transport Defects in Human Inherited Metabolic Disorders.

ABSTRACT: Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. With regard to transporters that are closely connected to metabolism, amino acid transporter-associated diseases are linked to metabolic disorders, particularly when they involve different organs, cell types, or cell compartments. To date, 65 different human solute carrier (SLC) families and more than 400 transporter genes have been identified, including 11 that are known to include amino acid transporters. This review intends to summarize and update all the conditions in which a strong association has been found between an amino acid transporter and an inherited metabolic disorder. Many of t

SUBMITTER: Yahyaoui R 

PROVIDER: S-EPMC6981491 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature