ECEL1

Chr 2

endothelin converting enzyme like 1

Also known as: DA5D, DINE, ECEX, XCE

NCBI Gene: 9427 ENSG00000171551 UniProt: O95672

This gene encodes a zinc-containing endopeptidase that degrades peptide hormones and inactivates neuronal peptides. Mutations cause autosomal recessive distal arthrogryposis type 5D, which involves joint contractures primarily affecting the hands and feet. The gene is not highly constrained against loss-of-function variation.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtArthrogryposis, distal, 5D

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.83

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429