ECE1 Chromosome 1
Endothelin converting enzyme 1
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What This Gene Does
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]
Gene Info
Gene Group
M13 metallopeptidases
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000117298
Associated Conditions (7)
Aganglionic megacolon
Hirschsprung disease
cardiac defects
and autonomic dysfunction
Hypertension
essential
susceptibility to
Key Variants
RS199521200
Conflicting classifications of pathogenicity
Health Risk
RS200894751
Likely pathogenic
Aganglionic megacolon, Aganglionic megacolon
Health Risk
RS367812436
Likely pathogenic
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Health Risk
RS765763704
Likely pathogenic
Aganglionic megacolon, Aganglionic megacolon
Health Risk
RS3026906
Pathogenic
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Health Risk
RS213045
risk factor
Hypertension, essential, susceptibility to
Health Risk
RS213046
risk factor
Hypertension, essential, susceptibility to
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199521200 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200894751 | Health Risk | Likely pathogenic | Aganglionic megacolon, Aganglionic megacolon |
| RS367812436 | Health Risk | Likely pathogenic | Hirschsprung disease, cardiac defects, and autonomic dysfunction |
| RS765763704 | Health Risk | Likely pathogenic | Aganglionic megacolon, Aganglionic megacolon |
| RS3026906 | Health Risk | Pathogenic | Hirschsprung disease, cardiac defects, and autonomic dysfunction |
| RS213045 | Health Risk | risk factor | Hypertension, essential, susceptibility to |
| RS213046 | Health Risk | risk factor | Hypertension, essential, susceptibility to |