DISEASES

Disease-gene associations mined from literature

Literature on SHANK1

SHANK1 [ENSP00000293441]

SH3 and multiple ankyrin repeat domains protein 1; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction; Belongs to the SHANK family.

Synonyms:  SHANK1,  SHANK1p,  hSHANK1,  H9KV90,  M0QYB5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM