Home > Product > Antibody > Rabbit Anti-SHROOM4 antibody
Protein Shroom4; RP11-119E20.1; Second homolog of apical protein; SHAP; SHRM4_HUMAN; Shroom family member 4; SHROOM4.
Cat:
SL17475R
Species Reactivity:
(predicted: Human,Mouse,Rat,Rabbit,)
Immunogen:
KLH conjugated synthetic peptide derived from human SHROOM4:551-650/1493
Format:
Liquid
Storage instructions:
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500(Paraffin sections need to do antigen repair)not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
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Unit:
Price: $
Product PDFs
Datasheet:


This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a SLCterminal 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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