TGFBR1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TGFBR1 wild-type allele is located within 9q22 and is approximately 45 kb in length. This allele, which encodes TGF-beta receptor type-1 protein, is involved in TGF-beta signal transduction. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome.

**Synonyms:** - AAT5 - ACVRLK4 - ALK-5 - ALK5 - Activin A Receptor Type II-Like Kinase, 53kDa Gene - ESS1 - LDS1 - LDS1A - LDS2A - MSSE - Multiple Self-Healing Squamous Epithelioma Gene - SKR4 - TBR-I - TBRI - TGFBR1 - TGFR-1 - TbetaR-I - Transforming Growth Factor Beta Receptor 1 wt Allele - Transforming Growth Factor, Beta Receptor I (Activin A Receptor Type II-Like Kinase, 53kDa) Gene - Transforming Growth Factor, Beta Receptor I Gene - Transforming Growth Factor-Beta Receptor, Type I Gene