Endothelin-Converting Enzyme 1 (ECE1) Antibody – Rabbit Polyclonal

The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]

ECE1: Converts big endothelin-1 to endothelin-1. Defects in ECE1 are a cause of Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD). It is a form of Hirschsprung disease with skip-lesions defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction. Belongs to the peptidase M13 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell surface; Vesicle; EC 3.4.24.71; Protease; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1p36.1

Cellular Component: early endosome; endosome; external side of plasma membrane; integral to membrane; lysosomal membrane; membrane; perinuclear region of cytoplasm; plasma membrane; vesicle

Molecular Function: endopeptidase activity; metal ion binding; metalloendopeptidase activity; peptide hormone binding; protein binding; protein homodimerization activity

Biological Process: apoptosis; ear development; embryonic digit morphogenesis; heart development; hormone catabolic process; peptide hormone processing; pharyngeal system development; positive regulation of cAMP biosynthetic process; positive regulation of G-protein coupled receptor protein signaling pathway; positive regulation of receptor recycling; protein processing; regulation of systemic arterial blood pressure by endothelin; regulation of vasoconstriction; regulation of vasodilation; response to cadmium ion; response to drug; response to hypoxia

Disease: Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction; Hypertension, Essential