Gene: ENG

Alternate names for this Gene: END|HHT1|ORW1

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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: endoglin

Type of Gene: protein-coding

rs1060501408 in ENG gene and Hereditary hemorrhagic telangiectasia PMID 22192717 2011 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

PMID 21967607 2011 Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.

PMID 17786384 2007 Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

PMID 22022569 2011 Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

PMID 15024723 2004 Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

PMID 22991266 2012 Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.

PMID 21158752 2011 Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

PMID 22385575 2012 A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.

PMID 15879500 2006 Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

PMID 20656886 2010 The physiological role of endoglin in the cardiovascular system.

PMID 19767588 2009 Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

PMID 25970827 2016 Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

rs7034078 in ENG gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.