QuickView for ECE1 (gene)

Gene Symbol:

ECE1 Homo sapiens

Full name:

endothelin converting enzyme 1

Synonyms:

ECE, endothelin-converting enzyme 1, ECE-1

Genomic Location:

Chr 1: 21418939-21489494

Description:

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.

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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

SP1_01 ,  E2F1_Q4 ,  SP1_Q6_01

Cytogenetic Map:

1p36.12

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