ECE1

(redirected from OTTHUMP00000002726)

ECE1

A gene on chromosome 1p36.1 that encodes endothelin-converting enzyme 1, which is involved in proteolytic processing of endothelin precursors to biologically active peptides.

Molecular pathology
ECE1 mutations are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.