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- W2077970718 abstract "Heteromeric amino acid transporters (HATs) are composed of two subunits, a polytopic membrane protein (the light subunit) and a disulfide-linked type II membrane glycoprotein (the heavy subunit). HATs represent several of the classic mammalian amino acid transport systems (e.g., L isoforms, y(+)L isoforms, asc, xc-, and b(0,+)). The light subunits confer the amino acid transport specificity to the HAT. Two transporters of this family are relevant for inherited aminoacidurias. Mutations in any of the two genes coding for the subunits of system b(0,+) (rBAT and b(0,+)AT) lead to cystinuria (MIM 220100). Transport defects in a system y(+)L isoform, composed of 4F2hc and y(+)LAT-1, result in lysinuric protein intolerance (LPI) (MIM 222700). In this case, only mutations in the light subunit y(+)LAT-1, but not in the heavy chain 4F2hc, cause the disease. LPI, in addition to affecting intestinal and renal reabsorption of amino acids, is a multisystemic disease affecting the urea cycle and presents also with symptoms related to the immune system. The pathogenesis of these alterations is less well, or not understood at all." @default.
- W2077970718 created "2016-06-24" @default.
- W2077970718 creator A5013084402 @default.
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- W2077970718 creator A5059581003 @default.
- W2077970718 creator A5067355765 @default.
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- W2077970718 date "2004-04-01" @default.
- W2077970718 modified "2023-10-14" @default.
- W2077970718 title "Lysinuric protein intolerance: mechanisms of pathophysiology" @default.
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- W2077970718 doi "https://doi.org/10.1016/j.ymgme.2003.11.015" @default.
- W2077970718 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15050971" @default.