GENE NAME | ECEL1 |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000171551 |
ENTREZ ID | 9427 |
UNIPROT ACCESSION NUMBER | O95672 |
GO MOLECULAR FUNCTION | hydrolase activity; peptidase activity; metallopeptidase activity; metalloendopeptidase activity; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
1 combination linked to ECEL1 | OLI789 |
1 variant linked to ECEL1 | ECEL1:c.505_529del, p.Gly169SerfsTer26 |
1 disease linked to ECEL1 | Arthrogryposis syndrome |