Target intelligence / Profile preview

Shroom family member 4 (SHROOM4)

Target
SHROOM4
Molecular classification
Other (actin-associated/cytoskeletal protein)
01

Overview

Shroom family member 4 (SHROOM4) is an actin-associated protein encoded by the KIAA1202 gene, primarily known for its roles in cytoskeletal organization and neural development[5][4][1]. It contains an N-terminal PDZ domain and a C-terminal ASD2 motif, which participate in intracellular protein-protein interactions, particularly affecting synaptic structure and function[3][5][2]. SHROOM4 is highly expressed in neural tissues, where it is a critical regulator of dendritic spine morphology, and modulates surface expression and trafficking of GABA_B receptors[5]. Mutations in SHROOM4 are linked to X-linked intellectual disability (Stocco dos Santos syndrome) and epilepsy, highlighting its importance in neurodevelopment and synaptic function[2][5][4]. There are no current reports of SHROOM4 being a direct therapeutic drug target and no known drug interactions.

Other names
KIAA1202SHAPShrm4Second homolog of apical proteinMRXSSDSshrm4Shroom4
02

Biological functions

Cytoskeletal organizationSynaptogenesisRegulation of dendritic spine structureIntracellular trafficking of GABA_B receptorNeural development
03

Disease associations

Neurodevelopmental disorderX-linked Stocco dos Santos syndrome (X-linked intellectual disability)EpilepsyCognitive disabilities

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