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Sequence of this protein is as follows: MEPGLWLLFG LTVTSAAGFV PCSQSGDAGR RGVSQAPTAA RSEGDCEETV AGPGEETVAG PGEGTVAPTA LQGPSPGSPG QEQAAEGAPE HHRSRRCTCF TYKDKECVYY CHLDIIWINT PEQTVPYGLS NYRGSFRGKR SAGPLPGNLQ LSHRPHLRCA CVGRYDKACL HFCTQTLDVS SNSRTAEKTD KEEEGKVEVK DQQSKQALDL HHPKLMPGSG LALAPSTCPR CLFQEGAP
The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Endothelin-3; ET 3; ET-3; MGC15067; MGC61498; PPET3; Preproendothelin 3; Preproendothelin-3; RP4-614C15.1
基因别名: EDN3; ET-3; ET3; HSCR4; PPET3; WS4B
UniProt ID: (Human) P14138
Entrez Gene ID: (Human) 1908