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ECE1
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Adipocytes)
Immune cell specificity
Immune cell enhanced (neutrophil)
Cell line specificity
Cell line enhanced (HUVEC TERT2, TIME)
Interaction
Homodimer; disulfide-linked (PubMed:18992253). Interacts with PPP1R16B (By similarity).
Molecular function
Hydrolase, Metalloprotease, Protease
More Types Infomation
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1, κ
- Application: WB, IP, IF, ELISA
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For Research Use Only. Not For Clinical Use.