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RBM28 Rabbit pAb (bs-19769R)  
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產品編號 bs-19769R
英文名稱 RBM28 Rabbit pAb
中文名稱 RNA結合蛋白28抗體
別    名 2810480G15Rik; FLJ10377; RBM 28; RBM28; RBM28_HUMAN; RNA binding motif protein 28; RNA binding protein 28; RNA-binding motif protein 28; RNA-binding protein 28.  
研究領域 細胞生物  發(fā)育生物學  神經生物學  結合蛋白  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human,Mouse,Rabbit,Dog,Horse)
產品應用 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 85 kDa
檢測分子量
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human RBM28: 601-700/759 
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 The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Function:
Nucleolar component of the spliceosomal ribonucleoprotein complexes.

Subcellular Location:
Nucleus > nucleolus.

Tissue Specificity:
Ubiquitously expressed.

DISEASE:
Defects in RBM28 are the cause of alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]. Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.

Similarity:
Contains 4 RRM (RNA recognition motif) domains.

SWISS:
Q9NW13

Gene ID:
55131

Database links:

Entrez Gene: 475203 Dog

Entrez Gene: 100071725 Horse

Entrez Gene: 55131 Human

Entrez Gene: 100338231 Rabbit

Omim: 612074 Human

SwissProt: Q9NW13 Human

Unigene: 274263 Human



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