Gene Symbol | ECEL1 |
Entrez Gene ID | 9427 |
Full Name | endothelin converting enzyme like 1 |
Synonyms | DA5D,DINE,ECEX,XCE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Arthrogryposis, distal, type 5D, 615065 (3) |