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Proteintech
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Immunogen sequence: HVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ (142-503 aa encoded by BC042637)
Activin A receptor type II-like 1 (ACVRL1) is a type I cell-surface receptor for the TGF-beta superfamily of ligands. ACVRL1, similar to other type 1 receptors, has a conserved serine-threonine kinase subdomain, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. Mutations in ACVRL1 are associated with hemorrhagic telangiectasia type 2. Mutations in ACVRL1 have been linked to Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder characterized by the formation of bone in muscles, tendons, and other connective tissues, as well as Epicanthus.
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: activin A receptor type II-like 1; activin A receptor type IL; activin A receptor, type II-like kinase 1; Activin receptor type-1-like; Activin receptor-like kinase 1; ALK-1; Serine/threonine-protein kinase receptor R3; SKR3; TGF-B superfamily receptor type I; TSR-I
基因别名: ACVRL1; ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I
UniProt ID: (Human) P37023
Entrez Gene ID: (Human) 94