Endotelin 3
Endotelin-3 je protein, koji je kod ljudi kodiran genom EDN3.[5]
Protein koji kodira ovaj gen član je porodice endotelina. Endotelini su vazoaktivni peptidi izvedeni iz endotela koji su uključeni u razne biološke funkcije. Aktivni oblik ovog proteina je peptid od 21 aminokiseline, prerađen iz proteina preteče. Aktivni peptid je ligand za endotelinski receptor tip B (EDNRB). Interakcija ovog endotelina s EDNRB od suštinske je važnosti za razvoj ćelijskih loza izvedenih iz nrvnog grebena, kao što su melanociti i crijevni neuroni. Mutacije u ovom genu i EDNRB povezane su sa Hirschsprungovom bolešću (HSCR) i Waardenburgovim sindromom (WS), koji su urođeni poremećaji koji uključuju ćelije izvedene iz nervnog grebena. Uočene su četiri alternativno prerađene varijante transkripta, koje kodiraju tri različite izoforme.[5][5]
Reference
[uredi | uredi izvor]- ^ a b c GRCh38: Ensembl release 89: ENSG00000124205 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027524 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: EDN3 endothelin 3".
Dopunska literatura
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