DISEASES

Disease-gene associations mined from literature

Literature associating ZFYVE9 and intermediate spinal muscular atrophy

ZFYVE9 [ENSP00000287727]

Zinc finger FYVE domain-containing protein 9; Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization.

Synonyms:  ZFYVE9,  ZFYVE9p,  hZFYVE9,  O95405,  O95405p ...

Linkouts:  STRING  Pharos  UniProt  OMIM