ACVRL1 è un gene codificato dal simbolo ACVRL1. Altri nomi includono: Serine/threonine-protein kinase receptor R3; SKR3; Activin receptor-like kinase 1; ALK-1; TGF-B superfamily receptor type I; TSR-I; ACVRLK1; ALK1. ACVRL1 ha una massa di 56.12kDa, una lunghezza di amminoacidi di 503, ed è implicato in Telangiectasia, hereditary hemorrhagic, 2.
Offriamo 9 anticorpi contro ACVRL1, allevati nel Coniglio, Capra e Human, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.
Sommario di Entrez
This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.
Coinvolgimento nella malattia
Telangiectasia, hereditary hemorrhagic, 2: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Somiglianze di sequenza
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Posizione cellulare
Cell membrane.
