LP71479-7
ENG gene
Active
Descriptions
The endoglin gene (ENG) and the activin A receptor, type II-like 1 gene (ACVRL1) are most commonly associated with hereditary hemorrhagic telangiectasia (HHT). Mutations in these genes occur in about 80% of individuals with HHT. ENG and ACVRL1 encode for membrane glycoproteins involved in transforming growth factor-beta signaling related to vascular integrity. Mutations in ENG are associated with HHT type 1 (HHT1), a condition with a higher incidence of pulmonary arteriovenous malformations, whereas ACVRL1 mutations occur in HHT type 2 (HHT2), a condition with a higher incidence of hepatic arteriovenous malformations. The majority of mutations in ENG and ACVRL1 are point mutations, which are identified by sequencing with a detection rate of approximately 60% to 80% of mutations involved in HHT. Approximately 10% of ENG and ACVRL1 mutations are large genomic deletions and duplications, which are detectable by methods such as multiplex ligation-dependent probe amplification (MLPA). Copyright Copyright © 1995-2009 Source: Mayo Medical Laboratories
The ENG gene (endoglin) [HGNC Gene ID:3349] is located on chromosome 9q34.11. 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] [NCBI Gene ID:2022] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- ENG gene
- Part Display Name
- ENG gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-02
- Construct for LOINC Short Name
- ENG
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ENG 基因 Synonyms: CD105; |
| tr-TR | Turkish (Turkey) | ENG geni |
| it-IT | Italian (Italy) | ENG, gene Synonyms: Gene ENG |
| es-ES | Spanish (Spain) | Gen ENG |
| ru-RU | Russian (Russian Federation) | ENG ген |
| nl-NL | Dutch (Netherlands) | ENG-gen Synonyms: ENG gen |
| el-GR | Greek (Greece) | Γονίδιο ENG Synonyms: Γονίδιο ENG |
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