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

Gene: LOC102723566

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1085307432 in ENG;LOC102723566 gene and HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION PMID 14684682 2003 Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

PMID 15115879 2004 Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.

PMID 15687131 2005 Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

PMID 18156574 2008 Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1.

PMID 23919827 2013 Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

rs1085307433 in ENG;LOC102723566 gene and Hereditary hemorrhagic telangiectasia PMID 15115879 2004 Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.

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

PMID 16752392 2006 Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

PMID 9554745 1998 Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

PMID 15880681 2005 High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

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

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

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

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

PMID 12673790 2003 Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

PMID 15517393 2005 Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

PMID 17384219 2007 Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

PMID 15712271 2005 Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

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

rs142896669 in ENG;LOC102723566 gene and Pulmonary Hypertension, Primary, 1 PMID 23298310 2013 Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

rs121918401 in ENG;LOC102723566 gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

PMID 19553198 2011 International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

PMID 20414677 2010 Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

PMID 7894484 1994 Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

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

PMID 9157574 1997 A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.

PMID 9245986 1997 Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

PMID 10982033 2000 Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

PMID 9554745 1998 Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

PMID 16752392 2006 Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

PMID 15712270 2005 Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

PMID 16525724 2006 Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

PMID 10751092 2000 Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

PMID 16429404 2006 DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.