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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. The molecular bases of cystinuria and lysinuric protein intolerance. Palacín, M., Borsani, G., Sebastio, G. Curr. Opin. Genet. Dev. (2001) [Pubmed]
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