DISEASES

Disease-gene associations mined from literature

Literature associating TGFBRAP1 and ARC syndrome

TGFBRAP1 [ENSP00000377027]

Transforming growth factor, beta receptor associated protein 1; Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2.

Synonyms:  TGFBRAP1,  Q8WUH2,  Q8WUH2p,  hQ8WUH2,  9392 ...

Linkouts:  STRING  Pharos  UniProt