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ECE1

MIM.600423 1p36.1

Thursday 1 May 2008

Endothelin-converting enzyme-1 is involved in the proteolytic processing of endothelin-1 (EDN1) (MIM.131240), -2 (EDN2) (MIM.131241), and -3 (EDN3) (MIM.131242) to biologically active peptides.

Pathology

- arg742-to-cys mutation in the ECE1 gene in a patient with skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction.

- variants in susceptibility of essential hypertension.

See also

- Hirschsprung disease genes

RET GDNF NTRN SOX10 EDNRB EDN3 ECE1 ZFHX1B PHOX2B TCF4

References

- Hofstra, R. M. W.; Valdenaire, O.; Arch, E.; Osinga, J.; Kroes, H.; Loffler, B.-M.; Hamosh, A.; Meijers, C.; Buys, C. H. C. M. : A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. (Letter) Am. J. Hum. Genet. 64: 304-308, 1999. PubMed ID : #9915973#