WP5029 - Amino acid transport defects (IEMs) - Homo sapiens
收藏NIAID Data Ecosystem2026-05-02 收录
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Within the group of aminoacidurias, several renal amino acid transporters involved in reabsorption might be affected; this absorption takes place in the proximal convoluted tubule (PCT). This pathway presents four of these disorders, which proteins involved in the apical surface and one disorder where the protein is located at the basolateral surface of the renal tubule. One of these disorders, iminoglycinuria, is seen as a benign disease.
This pathway was inspired by Chapter 6 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).
创建时间:
2025-04-17



