DISEASES

Disease-gene associations mined from literature

Literature associating OPHN1 and pontocerebellar hypoplasia type 8

OPHN1 [ENSP00000347710]

Oligophrenin 1; Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity); BAR-PH domain containing

Synonyms:  OPHN1,  OPHN1p,  hOPHN1,  O60890,  OPHN1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM