The molecular bases of cystinuria and lysinuric protein intolerance

Curr Opin Genet Dev. 2001 Jun;11(3):328-35. doi: 10.1016/s0959-437x(00)00198-2.

Abstract

Cystinuria and lysinuric protein intolerance are inherited aminoacidurias caused by defective amino-acid transport activities linked to a family of heteromeric amino-acid transporters (HATs). HATs comprise two subunits: co-expression of subunits 4F2hc and y(+)LAT-1 induces the efflux of dibasic amino acids from cells, whereas co-expression of subunits rBAT and b(o,+)AT induces the renal reabsorption and intestinal absorption of cystine and dibasic amino acids at the brush border of epithelial cells. Recently, the role of b(o,+)AT (SLC7A9) in cystinuria (non Type I) and the role of y(+)LAT-1 (SLC7A7) in lysinuric protein intolerance have been demonstrated.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Transport Disorders, Inborn / genetics*
  • Amino Acid Transport Systems
  • Animals
  • Carrier Proteins
  • Cystinuria / genetics*
  • Humans
  • Molecular Sequence Data

Substances

  • Amino Acid Transport Systems
  • Carrier Proteins