Endothelin Converting Enzyme 1 (ECE1) ELISA Kit for Human

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; Membrane protein, integral; Vesicle; EC 3.4.24.71; Protease

Chromosomal Location of Human Ortholog: 1p36.1

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

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

Biological Process: pharyngeal system development; regulation of systemic arterial blood pressure by endothelin; regulation of vasoconstriction; heart development; peptide hormone processing; ear development; hormone catabolic process; protein processing; embryonic digit morphogenesis; proteolysis; positive regulation of receptor recycling

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