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TGFBR1 transforming growth factor beta receptor 1

Gene ID: 7046, updated on 23-Nov-2023
Gene type: protein coding
Also known as: AAT5; ALK5; ESS1; LDS1; MSSE; SKR4; TBRI; ALK-5; LDS1A; LDS2A; TBR-i; TGFR-1; ACVRLK4; tbetaR-I


The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Associated conditions

See all available tests in GTR for this gene

Familial thoracic aortic aneurysm and aortic dissectionSee labs
Genetics of callous-unemotional behavior in children.
GeneReviews: Not available
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
GeneReviews: Not available
GWAS of dental caries patterns in the permanent dentition.
GeneReviews: Not available
Loeys-Dietz syndrome 1
MedGen: C4551955OMIM: 609192GeneReviews: Loeys-Dietz Syndrome
See labs
Multiple self-healing squamous epithelioma
MedGen: C0546476OMIM: 132800GeneReviews: Not available
See labs
Seven new loci associated with age-related macular degeneration.
GeneReviews: Not available

Copy number response

Copy number response

No evidence available (Last evaluated 2012-04-25)

ClinGen Genome Curation Page

Some evidence for dosage pathogenicity (Last evaluated 2012-04-25)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 9; NC_000009.12 (99103647..99154192)
Total number of exons:


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