SERPI3
LOCUS ID12
GENE_SYMBOLSERPI3
GENE NAMEserpin peptidase inhibitor, clade A (alpha-1 antiproteise, antitrypsin), member 3
SYNONYMNSATF1, ATF2, HFB1-GDNF
CHROMOSOME14
HOMOLOGENE ID111129
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene is a plasma protease inhibitor and member of the serine protease inhibitor class. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmory disease. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. An in vitro assay revealed that the human homologue SERPI3 increased the transendothelial permeability of retinal microvascular endothelial cells, which may be involved in the pathogenesis of diabetes and/or diabetic retinopathy.23545169