Overview:

TGFβR1 is a transmembrane serine/threonine protein kinase and a member of the TGFβ receptor subfamily (1). TGFβ regulates cell cycle progression by a unique signaling mechanism that involves its binding to TGFβR2 and activation of TGFβR1. TGFβR1 may be inactivated in many of the cases of human tumor cells refractory to TGFβ-mediated cell cycle arrest. Heterozygous mutations in TGFβR1 and TGFβR2 have been reported in Loeys-Dietz aortic aneurysm syndrome (LDS) and also dominant TGFβR2 mutations have been identified in Marfan syndrome type 2 (MFS2) and familial thoracic aortic aneurysms and dissections (TAAD). Mutations of TGFβR1 and TGFβR2 are associated with atherosclerosis and several human cancers (2).

Gene Aliases:

AAT5, ALK5, SKR4, ALK-5, TGFR-1, ACVRLK4

Genbank Number:

BC071181

References:

1. Mátyás, G. et al: Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat. 2006;27(8):760-9.
,br>2. Suarez, B.K. et al: TGFBR1*6A is not associated with prostate cancer in men of European ancestry. Prostate Cancer Prostatic Dis. ,2005;8(1):50-3.