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ENG |
LOCUS ID | 2022 | ||||||||||||||||
GENE_SYMBOL | ENG | ||||||||||||||||
GENE NAME | endoglin | ||||||||||||||||
SYNONYMNS | END, HHT1, ORW1 | ||||||||||||||||
CHROMOSOME | 9 | ||||||||||||||||
HOMOLOGENE ID | 92 |
microRNAs | NA | NA |
GENE SUMMARY |
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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 |
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Complication | Evidence | PMID |
Cardiovascular | 1. 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 |
Retinopathy | 1. 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 |
Neuropathy | 1. 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 |