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ECEL1 encodes a member of the M13 family of endopeptidases.
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Mutation of a conserved residue in ECEL1 is linked with fetal arthrogryposis multiplex congenita.
Our clinical findings are consistent with recessive ECEL1 mutations causing variably penetrant orbital dysinnervation phenotypes (ptosis and/or complex strabismus (show VANGL2 Proteins) with abnormal synkinesis)
Three novel ECEL1 mutations have been identified in consanguineous pedigrees of Saudi Arabian origin presenting with distal arthrogryposis type 5D.
A novel missense c.1819G>A mutation (G607S) in the ECEL1 gene has been identified in a consanguineous pedigree of Turkish origin presenting with congenital contracture syndromes.
We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Sp1 (show PSG1 Proteins) recruits ATF3 (show ATF3 Proteins), c-Jun (show JUN Proteins), and STAT3 (show STAT3 Proteins) to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene
DINE is expressed in cranial and spinal motor neurons both embryonically and after CNS injury
DINE enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury.
Using two different DINE mutant mice, study found that DINE functional disruption leads to impaired axonal arborization of motor nerves in limb muscles.
The data of this study suggested that DINE is a crucial molecule in distal axonal arborization into muscle to establish neuromuscular junctions.
Sp1 (show SP1 Proteins) recruits ATF3 (show ATF3 Proteins), c-Jun (show JUN Proteins), and STAT3 (show STAT3 Proteins) to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene
This gene encodes a member of the M13 family of endopeptidases. In general, M13 family members are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. This gene is expressed specifically in the central nervous system and its protein localizes predominately to the endoplasmic reticulum or, in trace amounts, to the cell surface. Disruption of this gene in mouse embryonic stem cells results in neonatal lethality due to respiratory failure shortly after birth. Based on the specific expression of this gene and the phenotype of the gene deficiency in mouse embryos, it is suggested that this protein plays a critical role in neural regulation of the respiratory system. This gene has multiple pseudogenes.
endothelin converting enzyme-like 1
, endothelin-converting enzyme-like 1-like
, X converting enzyme
, damage induced neuronal endopeptidase
, endothelin-converting enzyme-like 1
, damage-induced neuronal endopeptidase
, xce protein