Literature associating VPS39 and ARC syndrome
Vacuolar protein sorting 39 homolog (S. cerevisiae); Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2- dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation; Belongs to the VAM6/VPS39 family.
Synonyms: VPS39, VPS39p, hVPS39, A0A024R9L9, H3BTU0 ...