The role of PREPL in regulated secretion and neuromuscular transmission. KU Leuven
The Hypotonia-Cystinuria syndrome is caused by deletions of the Prolyl Endopeptidase-like (PREPL)</> and SLC3A1</> genes on chromosome 2p21. This recessive metabolic syndrome is characterized by cystinuria, neonatalhypotonia and growth hormone deficiency. Since it is well established that inactivating mutations or deletions in the SLC3A1</> gene cause isolated cystinuria, all other symptoms can be attributed to the deletion ...