ENG
LOCUS ID2022
GENE_SYMBOLENG
GENE NAMEendoglin
SYNONYMNSEND, HHT1, ORW1
CHROMOSOME9
HOMOLOGENE ID92
microRNAsNANA
GENE SUMMARY
This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

OBSERVATIONS

Complication Evidence PMID
Cardiovascular1. angiogenic proteins placental growth factor, soluble fms-like tyrosine kinase 1, and soluble endoglin in preeclampsia. Hence dysregulation in angiogenic proteins may link preeclampsia and cardiovascular diseases, targeting women who could in future benefit from prophylactic programs to possibly prevent, delay or reduce cardiovascular disease.25753566
Retinopathy1. These observations indicate that plasma levels of CD105 and vitreous levels of VEGF are associated with diabetic retinopathy, suggesting that CD105 and the angiogenic factor VEGF may play a critical role in the development and progression of diabetic retinopathy.16202216
Neuropathy1. Endoglin level is found significantly higher in diabetic neuropathy group than the diabetic milletus group.Result obtained supports the association of endoglin with endothelial dysfunction and angiogenesis.It might be used as a predictor of DPN development in DM pateints.27010147