ECE1 gene

endothelin converting enzyme 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Converts big endothelin-1 to endothelin-1.

From NCBI Gene:

  • Hirschsprung disease, cardiac defects, and autonomic dysfunction
  • Essential hypertension

From UniProt:

Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD): A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. [MIM:613870]

Cytogenetic Location: 1p36.12, which is the short (p) arm of chromosome 1 at position 36.12

Molecular Location: base pairs 21,217,247 to 21,345,541 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.12, which is the short (p) arm of chromosome 1 at position 36.12