Details for Gene ECEL1

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

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