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Product Name SHROOM4 Chinese Name SHROOM4蛋白抗体 Alias Protein Shroom4; RP11-119E20.1; Second homolog of apical protein; SHAP; SHRM4_HUMAN; Shroom family member 4; SHROOM4. Research Area Cell biology Developmental biology Signal transduction Cytoskeleton Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Rabbit, ) Applications ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 165kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human SHROOM4: 551-650/1493 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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 Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
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.
Subcellular Location:
Cytoplasm > cytoskeleton. Shows partial colocalization with the cytoplasmic pool of F-actin.
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.
DISEASE:
Defects 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).
Similarity:
Belongs to the Shroom family.
Contains 1 ASD2 domain.
Contains 1 PDZ (DHR) domain.
SWISS:
Q9ULL8
Gene ID:
57477
Database links:Entrez Gene: 57477 Human
Omim: 300579 Human
SwissProt: Q9ULL8 Human
Unigene: 420541 Human
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