THBD
LOCUS ID7056
GENE_SYMBOLTHBD
GENE NAMEthrombomodulin
SYNONYMNSTM, THRM, AHUS6, BDCA3, CD141, THPH12
CHROMOSOME20
HOMOLOGENE ID308
microRNAsNANA
GENE SUMMARY
The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. lectin-like domain of thrombomodulin (THBD), which is known as THBD domain 1 (THBDD1) and which acts independently of protein C activation, neutralised an inflammatory response in a mouse model of sepsis. Here, therapeutic effects of gene therapy with adeno-associated virus (AAV)-carried THBDD1 (AAV-THBDD1) were tested in a mouse model of type 2 diabetic nephropathy. AAV-THBDD1 gene therapy resulted in improvements in a model of diabetic nephropathy by suppressing the NF-kappa B-NLRP3 inflammasome-mediated inflammatory process, enhancing the NRF2 antioxidant pathway and inhibiting apoptosis in the kidney.24317792