Gene: LOC105379841

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1085307430 in LOC105379841;ENG 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.

rs1060501410 in LOC105379841;ENG gene and Hereditary hemorrhagic telangiectasia PMID 15517393 2005 Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

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

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

PMID 24196379 2014 Hereditary hemorrhagic telangiectasia in Japanese patients.

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

PMID 16690726 2006 Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

PMID 11440987 2001 Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

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

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

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 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 15375013 2004 Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes.

PMID 12920067 2003 Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

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

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

PMID 15849752 2005 Association of hereditary hemorrhagic telangiectasia and hereditary nonpolyposis colorectal cancer in the same kindred.

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

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

PMID 25080347 2014 Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses.

PMID 10749981 2000 Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

PMID 9366572 1997 Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.

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

PMID 19508727 2009 "Mutation analysis of ""Endoglin"" and ""Activin receptor-like kinase"" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique."

PMID 16705692 2006 Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

PMID 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

PMID 19270816 2009 Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.

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

PMID 23722869 2014 Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

PMID 15521985 2004 Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.

rs878853657 in LOC105379841;ENG gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic 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 7894484 1994 Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

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 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

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

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

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

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

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

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