DISEASES

Disease-gene associations mined from literature

Literature associating ARHGAP44 and autosomal recessive nonsyndromic deafness 101

ARHGAP44 [ENSP00000368994]

RhoGAP interacting with CIP4 homologs protein 2; 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. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation; N-BAR domain containing

Synonyms:  ARHGAP44,  LOC102725102,  LOC102725515,  A6NCP5,  ARHGAP44-001 ...

Linkouts:  STRING  Pharos  UniProt