DISEASES

Disease-gene associations mined from literature

Literature associating ACVRL1 and connective tissue disease

ACVRL1 [ENSP00000373574]

Serine/threonine-protein kinase receptor R3; 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; Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.

Synonyms:  ACVRL1,  ACVRL1p,  hACVRL1,  B4DUF0,  D9IPD9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM