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ECEL1

Official Full Name
endothelin converting enzyme like 1
Organism
Homo sapiens
GeneID
9427
Background
This gene encodes 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. [provided by RefSeq, Mar 2014]
Synonyms
XCE; DA5D; DINE; ECEX;

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