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DYX2/KIAA0319 Rabbit pAb (bs-11862R)  
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產(chǎn)品編號(hào) bs-11862R
英文名稱 DYX2/KIAA0319 Rabbit pAb
中文名稱 閱讀障礙相關(guān)蛋白DLX2抗體
別    名 DLX 2; DLX2; DYLX 2; DYLX2; Dyslexia susceptibility 2; Dyslexia-associated protein KIAA0319 DYX 2; DYX2; K0319_HUMAN; Kiaa0319; MGC176717.  
研究領(lǐng)域 細(xì)胞生物  神經(jīng)生物學(xué)  
抗體來(lái)源 Rabbit
克隆類型 Polyclonal
克 隆 號(hào)
交叉反應(yīng) (predicted: Human,Mouse,Rat,Pig,Sheep,Cow,Horse)
產(chǎn)品應(yīng)用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 116 kDa
檢測(cè)分子量
細(xì)胞定位 細(xì)胞漿 細(xì)胞膜 分泌型蛋白 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human DYX2/KIAA0319: 682-760/1072 <Extracellular>
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項(xiàng) This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 DYX2 is a 1072 amino acid single-pass transmembrane protein that contains one MANSC domain and two PKD (Polycystic Kidney Disease) domains, which are usually found in the extracellular regions of proteins and are involved in protein-protein interactions. In DYX2, it is likely that its PKD domains mediate the interaction between neurons and glial fibers during neuronal migration. When overexpressed, this plasma membrane protein colocalizes with EEA1 (early endosome antigen 1) in large intracellular vesicles, suggesting that it is endocytosed and recycled. DYX2 is highly expressed in brain cortex, cerebellum, amygdala, putamen and hippocampus. Defects in the gene encoding DYX2 may be the cause of dyslexia type 2, a relatively common disorder that is characterized by reading performance impairment in the absence of sensory or neurologic disability. There are three isoforms of DYX2 that are produced as a result of alternative splicing events

Function:
Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.

Subunit:
Homodimer. Interacts with AP2M1; required for clathrin-mediated endocytosis.

Subcellular Location:
Cell membrane. Early endosome membrane. Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.

Tissue Specificity:
Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.

Post-translational modifications:
N-glycosylated.
O-glycosylated.
Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.

DISEASE:
Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability. Note=A lower expression is associated with the risk haplotype.

Similarity:
Contains 1 MANSC domain.
Contains 5 PKD domains.

SWISS:
Q5VV43

Gene ID:
9856

Database links:

Entrez Gene: 520603 Cow

Entrez Gene: 9856 Human

Omim: 609269 Human

SwissProt: Q5VV43 Human

Unigene: 26441 Human



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