Target intelligence / Profile preview

Endothelin-converting enzyme-like 1 (ECEL1)

Target
ECEL1
Molecular classification
Enzyme, Endopeptidase, Metallopeptidase, M13 family, Type II integral-membrane protein
01

Overview

Endothelin-converting enzyme-like 1 (ECEL1) is a membrane-bound zinc metalloendopeptidase of the M13 family, expressed predominantly in the nervous system.[2][6] It participates in the degradation and inactivation of neuropeptides and peptide hormones, and mouse studies indicate it is critical for nervous regulation of the respiratory system. Mutations in ECEL1 cause autosomal recessive distal arthrogryposis type 5D, a congenital disorder affecting limb and thumb mobility, and are linked to defects in respiratory function at birth.[1][2][6] There are currently no drugs approved for direct targeting of ECEL1, nor is it used as a biomarker.

Other names
Endothelin-converting enzyme-like 1ECEL1XCEUNQ2431/PRO4991DINEXce proteindamage induced neuronal endopeptidaseDA5DECEXX converting enzyme
02

Biological functions

Neuropeptide degradationPeptide hormone regulationInactivation of neuronal peptidesNervous regulation of the respiratory system
03

Disease associations

Arthrogryposis, distal, type 5D (congenital)Adducted thumbs (congenital)Neonatal respiratory failure (mouse models)
04

Safety considerations

Deficiency leads to severe congenital phenotypes, especially respiratory failure in neonates (mouse model)no specific safety concerns related to therapeutic targeting in humans are reported in available sources.

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