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Rabbit Anti-ROGDI  antibody (bs-21039R)  
~~~促銷代碼KT202411~~~
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產品編號 bs-21039R
英文名稱 Rabbit Anti-ROGDI  antibody
中文名稱 亮氨酸拉鏈結構域蛋白ROGDI抗體
別    名 FLJ22386; KTZS; Leucine zipper domain protein; Protein rogdi homolog; rogdi; rogdi homolog (Drosophila); rogdi, Drosophila, homolog of; ROGDI_HUMAN.  
研究領域 細胞生物  發育生物學  神經生物學  細胞周期蛋白  轉錄調節因子  激酶和磷酸酶  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human,Mouse,Rat,Pig,Sheep,Cow)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=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 32kDa
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human ROGDI: 31-130/287 
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 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

Database links:

Entrez Gene: 79641 Human

Entrez Gene: 66049 Mouse

Entrez Gene: 287061 Rat

Omim: 614574 Human

SwissProt: Q9GZN7 Human

SwissProt: Q3TDK6 Mouse

SwissProt: Q4V7D2 Rat

Unigene: 459795 Human

Unigene: 27792 Mouse

Unigene: 995 Rat



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