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CEP152 Rabbit pAb (bs-7787R)  
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50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包裝/詢價
產品編號 bs-7787R
英文名稱 CEP152 Rabbit pAb
中文名稱 中心體蛋白152抗體
別    名 CE152_HUMAN; Centrosomal protein 152kDa; Centrosomal protein of 152 kDa; Cep152; FLJ21594; KIAA0912; MCPH4.  
研究領域 細胞生物  細胞周期蛋白  細胞分化  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 (predicted: Human,Mouse,Rat,Dog,Horse)
產品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,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 189 kDa
檢測分子量
細胞定位 細胞漿 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human CEP152: 901-1000/1654 
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 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 Defects in CEP152 are the cause of microcephaly primary type 4 (MCPH4). A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.

Function:
Regulator of genomic integrity and cellular response to DNA damage acting through ATR-mediated checkpoint signaling. Necessary for centrosome duplication. It functions as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, two molecules involved in centriole formation.

Subunit:
Interacts (via N-terminus) with PLK4. Interacts (via C-terminus) with CENPJ (via-N-terminus). Interacts with CINP. Interacts with CEP63; this interaction recruits CEP152 to centrosomes.

Subcellular Location:
Cytoplasm, cytoskeleton, centrosome. Note=Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles.

DISEASE:
Defects in CEP152 are the cause of microcephaly primary type 4 (MCPH4) [MIM:604321]. A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Defects in CEP152 are the cause of Seckel syndrome type 5 (SCKL5) [MIM:613823]. A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

SWISS:
O94986

Gene ID:
22995

Database links:

Entrez Gene: 22995 Human

Entrez Gene: 99100 Mouse

Omim: 613529 Human

SwissProt: O94986 Human

SwissProt: A2AUM9 Mouse

Unigene: 443005 Human



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