Aliases for SHROOM4 Gene
External Ids for SHROOM4 Gene
Previous GeneCards Identifiers for SHROOM4 Gene
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]
GeneCards Summary for SHROOM4 Gene
SHROOM4 (Shroom Family Member 4) is a Protein Coding gene. Diseases associated with SHROOM4 include Stocco Dos Santos X-Linked Mental Retardation Syndrome and Stocco Dos Santos Syndrome. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is SHROOM3.
UniProtKB/Swiss-Prot Summary for SHROOM4 Gene
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).