产品货号 :  mlR19769

英文名称 :  RBM28

中文名称 :  RNA结合蛋白28抗体

别    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.  

研究领域 :  细胞生物  发育生物学  神经生物学  结合蛋白  表观遗传学  

抗体来源 :  Rabbit

克隆类型 :  Polyclonal

交叉反应 :  Human, Mouse, Dog, Horse, Rabbit,

产品应用 :  ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  85kDa

细胞定位 :  细胞核

性    状 :  Lyophilized or Liquid

浓    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human RBM28:601-700/759

亚    型 :  IgG

纯化方法 :  affinity purified by Protein A

储 存 液 :  0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

保存条件 :  Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed :  PubMed

产品介绍 :  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

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.