Disease-gene associations mined from literature

Literature associating AKTIP and discrete subaortic stenosis

AKTIP [ENSP00000378152]

Fused toes protein homolog; Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade; Ubiquitin conjugating enzymes E2

Synonyms:  AKTIP,  A0A024R6S6,  A0A024R6T5,  DKFZP434G1122,  FTS ...

Linkouts:  STRING  Pharos  UniProt  OMIM