ACVRL1

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. [provided by RefSeq, Jul 2008]

Description

activin A receptor type II-like 1

Protein family

Enzymes, Kinases, Membrane proteins predicted by MDM, Secreted proteins predicted by MDSP

Chromosome

12:q13.13 (52300692 - 52317145)

Ensembl ID

ENSG00000139567  (ver. 69.37)

Orthologs

Mouse Acvrl1: ENSMUSG00000000530

Human splice variants
Mouse splice variants