DISEASES

Disease-gene associations mined from literature

Literature on ARHGAP44

ARHGAP44 [ENSP00000368994]

Rho GTPase-activating protein 44; GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1 . In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin- patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation (By similarity). In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation (By similarity).

Synonyms:  ARHGAP44,  A0A087WZS3,  E7ERK8,  F5H6L3,  J3KRS3 ...

Linkouts:  STRING  Pharos  UniProt