ACVRL1
LOCUS ID94
GENE_SYMBOLACVRL1
GENE NAMEactivin A receptor type II-like 1
SYNONYMNSHHT, ALK1, HHT2, ORW2, SKR3, ALK-1, TSR-I, ACVRLK1
CHROMOSOME12
HOMOLOGENE ID20058
microRNAsNANA
GENE SUMMARY
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-termil 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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. The iNOS transgenic mice (iNOS-Tgm), which developed diabetic glomerulosclerosis resembling human diabetic nephropathy, exhibited markedly increased expressions of ALK1, TCF7L2, Smad1, pSmad1, and alpha-SMA in glomeruli in association with mesangial matrix expansion.These results provide a new evidence that the TCF7L2/ALK1/Smad1 pathway plays a key role in the development of DN.20803090