Gene: ECEL1

Alternate names for this Gene: DA5D|DINE|ECEX|XCE

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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: endothelin converting enzyme like 1

Type of Gene: protein-coding

rs149459910 in ECEL1 gene and Distal arthrogryposis type 5D PMID 23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

PMID 23261301 2013 Mutations in ECEL1 cause distal arthrogryposis type 5D.

PMID 23829171 2014 Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

PMID 23808592 2014 Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

rs1341894581 in ECEL1 gene and Dysmorphic features PMID 25708584 2015 ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

PMID 23261301 2013 Mutations in ECEL1 cause distal arthrogryposis type 5D.

PMID 24782201 2014 Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

PMID 23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

PMID 25099528 2014 Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

rs1341894581 in ECEL1 gene and Multiple congenital anomalies PMID 25099528 2014 Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

PMID 23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

PMID 23261301 2013 Mutations in ECEL1 cause distal arthrogryposis type 5D.

PMID 24782201 2014 Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

PMID 25708584 2015 ECEL1 mutation causes fetal arthrogryposis multiplex congenita.