Palacín M, Borsani G, Sebastio G
Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Avda. Diagonal 645, E-08028, Barcelona, Spain.
Curr Opin Genet Dev. 2001 Jun;11(3):328-35. doi: 10.1016/s0959-437x(00)00198-2.
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.
胱氨酸尿症和赖氨酸尿性蛋白不耐受是遗传性氨基酸尿症，由与异源寡聚氨基酸转运蛋白（HATs）家族相关的缺陷性氨基酸转运活性引起。HATs由两个亚基组成：亚基4F2hc和y(+)LAT-1共表达诱导二碱基氨基酸从细胞中流出，而亚基rBAT和b(o,+)AT共表达诱导上皮细胞刷状缘对胱氨酸和二碱基氨基酸的肾重吸收和肠道吸收。最近，已证实b(o,+)AT（SLC7A9）在胱氨酸尿症（非I型）中的作用以及y(+)LAT-1（SLC7A7）在赖氨酸尿性蛋白不耐受中的作用。
