SHROOM4
Function
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).
Involvement in disease
A chromosomal aberration involving SHROOM4 is a cause of X-linked intellectual disability (XLID). Translocation t(X;8)(p11.22;p23.3) with FBXO25.
A chromosomal aberration involving SHROOM4 is a cause of X-linked intellectual disability (XLID). Translocation t(X;19).
Sequence Similarities
Belongs to the shroom family.
Tissue Specificity
Expressed in all fetal and adult tissues investigated. Expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. In brain regions detected in cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe and putamen. The expression is strongest in the medulla and weakest in the cerebral cortex.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Shows partial colocalization with the cytoplasmic pool of F-actin.
Alternative names
KIAA1202, SHAP, SHROOM4, Protein Shroom4, Second homolog of apical protein