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Rabbit Anti-GCM2/BF647 Conjugated antibody (bs-13314R-BF647)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產品編號 bs-13314R-BF647
英文名稱 Rabbit Anti-GCM2/BF647 Conjugated antibody
中文名稱 BF647標記的絨毛膜特異性轉錄因子GCM2抗體
別    名 Chorion-specific transcription factor GCMb; GCM motif protein 2; GCMb; Glial cells missing homolog 2; glial cells missing homolog b; GCM2_HUMAN.  
規格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
研究領域 細胞生物  發育生物學  干細胞  轉錄調節因子  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human, Mouse, Rat, Dog, Horse, Rabbit, )
產品應用 ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 57kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human GCM2
亞    型 IgG
純化方法 affinity purified by Protein A
儲 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 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.
產品介紹 background:
Glial cells missing homolog 2 (GCM2), also known as Chorion-specific transcription factor GCMb, is a 506 amino acid nuclear protein. GCM2 is a transcription factor that acts as an essential regulator of parathyroid development. GCM2 is also thought to mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. GCM2 contains one N-terminal GCM domain, which has DNA binding activity. Mutations of the gene that encodes GCM2 are associated with hypoparathyroidism, an autosomal recessive condition characterized by hypocalcemia and hyperphosphatemia.

Function:
Gcm2, a mouse ortholog of the Drosophila Glial Cells Missing gene, is expressed in the parathyroid-specific domains in the 3rd pouches from E9.5. The null mutation of Gcm2 causes aparathyroidism in the fetal and adult mouse and has been proposed to be a master regulator for parathyroid development. During Drosophila embryogenesis Gcm2 plays a crucial role in promoting glial cell differentiation.

Subcellular Location:
Nuclear.

DISEASE:
Defects in GCM2 are a cause of familial isolated hypoparathyroidism (FIH) [MIM:146200]; also known as autosomal dominant hypoparathyroidism or autosomal dominant hypocalcemia. FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. An autosomal recessive form of FIH also exists.

Similarity:
Contains 1 GCM DNA-binding domain.

Database links:

Entrez Gene: 9247 Human

Omim: 603716 Human

SwissProt: O75603 Human



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