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FLASH GENE
Symbol ECE1 contributors: shn/npt - updated : 01-03-2010
HGNC name endothelin converting enzyme 1
HGNC id 3146
ASSOCIATED DISORDERS
corresponding disease(s) HSCR5
Susceptibility
Variant & Polymorphism SNP
  • polymorphisms in the 5-prime flanking region of the ECE1 gene, -338C-A and -839T-G, are associated with ambulatory blood pressure values (Funke-Kaiser et al, 2003)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ECE-1-/- term mouse embryos exhibited craniofacial and cardiac abnormalities virtually identical to the defects seen in ET-1 and endothelin A receptor (ETA)-deficient embryos, epidermal melanocytes and enteric neurons of the distal gut are absent (Yanagisawa et al, 1998)
  • brains of mice deficient for ECE-1 display significant increases in the levels of both Abeta40 and Abeta42 (Eckman et al, 2003)