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RNA tissue category: Group enriched (ovary, hypothalamus, pituitary gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (ovary, retina)
GENE INFORMATION
Gene name
ECEL1 (HGNC Symbol)
Synonyms
DINE, XCE
Description
Endothelin converting enzyme-like 1 (HGNC Symbol)
Entrez gene 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]