DISEASES

Disease-gene associations mined from literature

Literature associating PREPL and congenital myasthenic syndrome 7

PREPL [ENSP00000386543]

Prolyl endopeptidase-like; Serine peptidase whose precise substrate specificity remains unclear . Does not cleave peptides after a arginine or lysine residue . Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex . May play a role in the regulation of synaptic vesicle exocytosis . ECO:0000269|PubMed:23321636, ECO:0000269|PubMed:24610330,

Synonyms:  PREPL,  C9JMT4,  H7BZP6,  H7C0M0,  Q4J6C6 ...

Linkouts:  STRING  Pharos  UniProt