Aliases for ECEL1 Gene
External Ids for ECEL1 Gene
Previous GeneCards Identifiers for ECEL1 Gene
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]
GeneCards Summary for ECEL1 Gene
ECEL1 (Endothelin Converting Enzyme-Like 1) is a Protein Coding gene. Diseases associated with ECEL1 include arthrogryposis, distal, type 5d and congenital contractures of the limbs and face, hypotonia, and developmental delay. GO annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is MMEL1.
UniProtKB/Swiss-Prot for ECEL1 Gene
May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.