background:
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].
Function:
Converts big endothelin-1 to endothelin-1.
Subunit:
Homodimer; disulfide-linked.
Subcellular Location:
Cell Membrane. Single pass type II membrane protein.
Tissue Specificity:
All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney.
DISEASE:
Defects in ECE1 are a cause of Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [MIM:613870]. It is a form of Hirschsprung disease with skip-lesions defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction.
Similarity:
Belongs to the peptidase M13 family.
Database links:
Entrez Gene: 281133 Cow
Entrez Gene: 1889 Human
Entrez Gene: 230857 Mouse
Entrez Gene: 94204 Rat
Omim: 600423 Human
SwissProt: P42891 Cow
SwissProt: P42892 Human
SwissProt: Q4PZA2 Mouse
SwissProt: P42893 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
内皮素转化酶(endothelin—converting enzyme-1)是内皮素ET生物合成的关键酶，在体内内皮素生物活性调节上起着极为重要的作用。
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