ACVRL1
Template:Short description Template:Infobox gene Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.[1][2][3]
ACVRL1 is a receptor in the TGF beta signaling pathway. It is also known as activin receptor-like kinase 1, or ALK1.
Function
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 hereditary hemorrhagic telangiectasia (HHT) type 2, also known as Rendu-Osler-Weber syndrome 2.[3]
Pathology
Germline mutations of ACVRL1 are associated with:
- hereditary hemorrhagic telangiectasia type 2 (Rendu-Osler-Weber syndrome 2)[4]
- Pulmonary arteriovenous malformations[5]
Somatic mosaicism in ACVRL1 are associated with severe pulmonary arterial hypertension.[6]
ACVRL1 directly interacts with low-density lipoprotein (LDL), which implies that it might initiate the early phases of atherosclerosis.[7]
Abnormal activity of ACVRL1 has been found to be closely associated with idiopathic pulmonary arterial hypertension.
As a drug target
- Dalantercept is an experimental ALK1 inhibitor.[8]
(Not to be confused with anaplastic lymphoma kinase (ALK) )
ALK4 is ACVR1B, ALK7 is ACVR1C, and ALK5 is [part of] the TGF-β type I receptor.[9]
See also
- TGF beta signaling pathway, see summary table for ALK*
References
<templatestyles src="Reflist/styles.css" />
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ a b Script error: No such module "citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
- ↑ Script error: No such module "Citation/CS1".
Script error: No such module "Check for unknown parameters".
Further reading
<templatestyles src="Refbegin/styles.css" />
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
Script error: No such module "Navbox".
Script error: No such module "Navbox".
Script error: No such module "Navbox".
Template:TGFβ receptor superfamily modulators
Template:Portal bar