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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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Distal enterocytes, Adipocytes, Endothelial cells, Paneth cells, Hepatic stellate cells, Fibroblasts)

Immune cell specificity

Group enriched (myeloid DC, classical monocyte)

Cell line specificity

Cell line enhanced (ASC diff, ASC TERT1, EFO-21, HUVEC TERT2, TIME)

Molecular function

Kinase, Receptor, Serine/threonine-protein kinase, Transferase

More Types Infomation

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