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PREPL

prolyl endopeptidase like
2 disorders 2 untyped 2p21 gene with protein product
HGNC:30228MonarchNCBI Gene 9581ENSG00000138078UniProt Q4J6C6OMIM 609557

Aliases: KIAA0436.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Congenital Myasthenic Syndrome untyped
Causal
mechanism: Presynaptic Acetylcholine Handling Defect
subtype: CMS22
scoped to subtype: CMS22
Hypotonia-cystinuria syndrome untyped
Causal deletion
mechanism: PREPL-related growth and appetite dysregulation; PREPL-related neuromuscular transmission defect; SLC3A1-PREPL contiguous gene deletion
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.