The molecular bases of cystinuria and lysinuric protein intolerance.
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.
Palacín
M
M
Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Avda. Diagonal 645, E-08028, Barcelona, Spain. mpalacin@porthos.bio.ub.es
Borsani
G
G
Sebastio
G
G
D000595:Amino Acid Sequence; D020157:Amino Acid Transport Disorders, Inborn / Q000235:genetics*; D026905:Amino Acid Transport Systems; D000818:Animals; D002352:Carrier Proteins; D003555:Cystinuria / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data
D026905:Amino Acid Transport Systems; D002352:Carrier Proteins