ACVRL1 activin A receptor like type 1
Gene ID: 94, updated on 24-Mar-2023Gene type: protein coding
Also known as: HHT; ALK1; HHT2; ORW2; SKR3; ALK-1; TSR-I; ACVRLK1
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- Go to complete Gene record for ACVRL1
- Go to Variation Viewer for ACVRL1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Telangiectasia, hereditary hemorrhagic, type 2 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2016-11-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2016-11-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q13.13
- Sequence:
- Chromosome: 12; NC_000012.12 (51906944..51923361)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for ACVRL1 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ACVRL1 database
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HHT Mutation Database (ACVRL1)
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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