ACVRL1 (GeneName), Serine/threonine-protein kinase receptor R3 (ProteinName), ACVL1_HUMAN.
Human ACVRL1/ Serine/threonine-protein kinase receptor R3 ELISA Kit
SKR3, Activin receptor-like kinase 1, ALK-1, TGF-B superfamily receptor type I, TSR-I, ACVRLK1, ALK1
Natural and recombinant human Serine/threonine-protein kinase receptor R3
Serum, plasma, tissue homogenates, cell culture supernates and other biological fluids
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.
Cell membrane Single-pass type I membrane protein
MTLGSPRKGL | LMLLMALVTQ | GDPVKPSRGP | LVTCTCESPH | CKGPTCRGAW |
CTVVLVREEG | RHPQEHRGCG | NLHRELCRGR | PTEFVNHYCC | DSHLCNHNVS |
LVLEATQPPS | EQPGTDGQLA | LILGPVLALL | ALVALGVLGL | WHVRRRQEKQ |
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 |
This product has not yet been referenced specifically in any publications.
"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
"Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2."
"Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity."
"Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex."
"Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation."
"Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique."
"Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia."
"Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease."
"Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers."
"Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
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