Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables GTPase activator activity and actin binding activity. Involved in negative regulation of proteasomal protein catabolic process. Acts upstream of or within several processes, including regulation of endocytosis; regulation of glutamatergic synaptic transmission; and synaptic vesicle endocytosis. Located in several cellular components, including actin cytoskeleton; dendritic spine; and terminal bouton. Is expressed in several structures, including central nervous system; lung; metanephros; retina; and thymus. Used to study syndromic intellectual disability. Human ortholog(s) of this gene implicated in X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. Orthologous to human OPHN1 (oligophrenin 1).
This site uses cookies.
Some cookies are essential for site operations and others help us analyze use and utility of our web site.
Please refer to our
privacy policy
for more information.