Entrez Summary: This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017].
UniProt Summary: Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). {ECO:0000250, ECO:0000269|PubMed:16684770}.
Pfam DomainsGO Terms
Pfam Domains
ASD2
GO Terms
myosin II binding
apical junction complex
basal plasma membrane
cortical actin cytoskeleton
cytoplasmic side of plasma membrane
adherens junction
stress fiber
actin filament
actin filament binding
actin cytoskeleton
actin filament organization
cognition
apical plasma membrane
supramolecular fiber organization
actin cytoskeleton organization
actin filament-based process
cell morphogenesis
brain development
head development
cellular component morphogenesis
central nervous system development
cytoskeleton organization
nervous system process
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)