产品货号 :  mlR21039

英文名称 :  ROGDI

中文名称 :  亮氨酸拉链结构域蛋白ROGDI抗体

别    名 :  FLJ22386; KTZS; Leucine zipper domain protein; Protein rogdi homolog; rogdi; rogdi homolog (Drosophila); rogdi, Drosophila, homolog of; ROGDI_HUMAN.  

研究领域 :  细胞生物  发育生物学  神经生物学  细胞周期蛋白  转录调节因子  激酶和磷酸酶  

抗体来源 :  Rabbit

克隆类型 :  Polyclonal

交叉反应 :  Human, Mouse, Rat, Pig, Cow, Sheep,

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 :  32kDa

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 ROGDI:31-130/287

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 :  This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Function:

May act as a positive regulator of cell proliferation.

Subcellular Location:

Nucleus.

Tissue Specificity:

Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver.

DISEASE:

The disease is caused by mutations affecting the gene represented in this entry.

Disease description:An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life.

Similarity:

Belongs to the rogdi family.

SWISS:

Q9GZN7

Gene ID:

79641

Important Note:

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