DISEASES

Disease-gene associations mined from literature

Literature associating STAM and Charcot-Marie-Tooth disease type 1C

STAM [ENSP00000366746]

Signal transducing adapter molecule 1; Involved in intracellular signal transduction mediated by cytokines and growth factors. Upon IL-2 and GM-CSL stimulation, it plays a role in signaling leading to DNA synthesis and MYC induction. May also play a role in T-cell development. Involved in down-regulation of receptor tyrosine kinase via multivesicular body (MVBs) when complexed with HGS (ESCRT-0 complex). The ESCRT-0 complex binds ubiquitin and acts as sorting machinery that recognizes ubiquitinated receptors and transfers them to further sequential lysosomal sorting/trafficking processes.

Synonyms:  A6NMU3,  C9J1E5,  Q92783,  A6NMU3p,  hA6NMU3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM