Harman Patil

ACVRL1

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Species  Human
Entrez  94
Human  Mouse
Ensembl  ENSG00000139567
ACVRL1
Aliases  ACVRL1, ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I, activin A receptor like type 1
External IDs  OMIM: 601284 MGI: 1338946 HomoloGene: 20058 GeneCards: ACVRL1

Serine/threonine-protein kinase receptor R3 is an enzyme that in humans is encoded by the ACVRL1 gene.

Contents

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 hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2.

Pathology

Germline mutations of ACVRL1 are associated with:

  • hereditary hemorrhagic telangiectasia type 2 (Rendu-Osler-Weber syndrome 2)
  • Pulmonary arteriovenous malformations
  • Somatic mosaicism in ACVRL1 are associated with severe pulmonary arterial hypertension.

    ACVRL1 directly interacts with low-density lipoprotein (LDL), which implies that it might initiate the early phases of atherosclerosis.

    As a drug target

  • Dalantercept is an experimental ALK1 inhibitor.
  • Closely/family related kinases

    (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.

    References

    ACVRL1 Wikipedia


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