The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/50 - 1/200. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
Use a concentration of 1 - 4 µg/ml. Fixation/Permeabilization: PFA/Triton X-100.
FunctionProbable 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.
Tissue specificityExpressed 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.
Involvement in diseaseDefects in SHROOM4 are the cause of mental retardation syndromic X-linked Stocco dos Santos type (SDSX) [MIM:300434]. A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25. Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).
Sequence similaritiesBelongs to the Shroom family. Contains 1 ASD2 domain. Contains 1 PDZ (DHR) domain.
Cellular localizationCytoplasm > cytoskeleton. Shows partial colocalization with the cytoplasmic pool of F-actin.