LP61781-8
ACVRL1 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 ACVRL1 gene (activin A receptor type II-like 1) [HGNC Gene ID:175] is located on chromosome 12q13.13. This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008] [NCBI Gene ID:94] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- ACVRL1 gene
- Part Display Name
- ACVRL1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-12-12
- Construct for LOINC Short Name
- ACVRL1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ACVRL1 基因 Synonyms: ACVRLK1; |
| et-EE | Estonian (Estonia) | ACVRL1 geen |
| es-ES | Spanish (Spain) | Gen ACVRL1 |
| it-IT | Italian (Italy) | ACVRL1, gene Synonyms: Gene ACVRL1 |
| tr-TR | Turkish (Turkey) | ACVRL1 geni |
| ru-RU | Russian (Russian Federation) | ACVRL1 ген |
| nl-NL | Dutch (Netherlands) | ACVRL1-gen Synonyms: ACVRL1 gen |
| fr-FR | French (France) | ACVRL1 gène |
| pl-PL | Polish (Poland) | ACVRL1 gen Synonyms: Gen ACVRL1 |
| el-GR | Greek (Greece) | Γονίδιο ACVRL1 Synonyms: Γονίδιο ACVRL1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://