ET-1 Polyclonal Antibody, 50ul Vacuum Filter see MIM 608375

see MIM 608375

The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme

Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBXO18/FBH1 and BLM

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Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II| also known as Hunter syndrome

ET-1 Polyclonal Antibody, 50ul Vacuum Filter see MIM 608375EDN1 encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants.