ECEL1, Official Symbol ECEL1provided by HGNC Official Full Name endothelin converting enzyme like 1provided by HGNC Primary source HGNC:HGNC:3147 See related Ensembl:ENSG00000171551 MIM:605896; AllianceGenome:HGNC:3147 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XCE; DA5D; DINE; ECEX 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] Expression Biased expression in ovary (RPKM 52.2) and spleen (RPKM 2.2) See more Orthologs mouse all