DISEASES

Disease-gene associations mined from literature

Literature associating SH3BP4 and cataract 8 multiple types

SH3BP4 [ENSP00000386862]

SH3 domain-binding protein 4; May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may act as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy.

Synonyms:  SH3BP4,  SH3BP4p,  hSH3BP4,  C9JED2,  C9JF25 ...

Linkouts:  STRING  Pharos  UniProt