| ACVRL1 |
| LOCUS ID | 94 | ||||||||||
| GENE_SYMBOL | ACVRL1 | ||||||||||
| GENE NAME | activin A receptor t | ||||||||||
| SYNONYMNS | HHT, ALK1, HHT2, ORW2, SKR3, ALK-1, TSR-I, ACVRLK1 | ||||||||||
| CHROMOSOME | 12 | ||||||||||
| HOMOLOGENE ID | 20058 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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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-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/th |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. 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 |