ECEL1
Function
May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.
Involvement in disease
Arthrogryposis, distal, 5D
DA5D
An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia.
None
The disease is caused by variants affecting the gene represented in this entry. ECEL1 mutations have also been found in patients with arthrogryposis, significant ophthalmoplegia, and refractive errors (PubMed:23808592).
Post-translational modifications
N-glycosylated.
Sequence Similarities
Belongs to the peptidase M13 family.
Tissue Specificity
Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala, caudate, thalamus, pancreas and skeletal muscle. Detected at very low levels in substantia nigra, cerebellum, cortex, corpus callosum and hippocampus.
Cellular localization
- Membrane
- Single-pass type II membrane protein
Alternative names
XCE, UNQ2431/PRO4991, ECEL1, Endothelin-converting enzyme-like 1, Xce protein