ECEL1 Chromosome 2
Endothelin converting enzyme like 1
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What This Gene Does
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]
Gene Info
Gene Group
M13 metallopeptidases
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000171551
Associated Conditions (5)
Distal arthrogryposis type 5D
ECEL1-related disorder
Inborn genetic diseases
See cases
Arthrogryposis multiplex congenita
Key Variants
RS117012322
Conflicting classifications of pathogenicity
Health Risk
RS1176131791
Conflicting classifications of pathogenicity
Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
Health Risk
RS138272112
Conflicting classifications of pathogenicity
ECEL1-related disorder, ECEL1-related disorder
Health Risk
RS140675806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151119841
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS180767588
Conflicting classifications of pathogenicity
Inborn genetic diseases, ECEL1-related disorder, Inborn genetic diseases
Health Risk
RS202167077
Conflicting classifications of pathogenicity
ECEL1-related disorder, Inborn genetic diseases, ECEL1-related disorder
Health Risk
RS2469652231
Conflicting classifications of pathogenicity
Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
Health Risk
RS368488157
Conflicting classifications of pathogenicity
Health Risk
RS532757890
Conflicting classifications of pathogenicity
Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
Health Risk
RS745378093
Conflicting classifications of pathogenicity
Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
Health Risk
RS751317107
Conflicting classifications of pathogenicity
See cases, Distal arthrogryposis type 5D, See cases
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587776920 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS587777129 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS587777130 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS587777131 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS606231471 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS767987856 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS878853117 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS878853118 | Health Risk | Pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS1370507095 | Health Risk | Pathogenic/Likely pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS765430577 | Health Risk | Pathogenic/Likely pathogenic | Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |