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ECEL1 is a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene Name: | endothelin converting enzyme-like 1 |
Family/Subfamily: | Protease , Metallopeptidase M13 |
Synonyms: | ECEL1, XCE, Xce protein, DINE, ECEX, X converting enzyme |
Target Sequences: | NM_004826 NP_004817.2 O95672 |
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