產品貨號 :  mlR4691

英文名稱 :  Galactocerebrosidase

中文名稱 :  半乳糖腦苷脂酶抗體

別  名 :  Gacy; Galc; Galactocerebroside beta galactosidase; Galactosylceramide beta-galactosidase; Galc; GALCERase; Twitcher; GALC_HUMAN; Galactocerebroside.  

研究領域 :  腫瘤  心血管  細胞生物  神經生物學  

抗體來源 :  Rabbit

克隆類型 :  Polyclonal

交叉反應 :   Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Guinea Pig,

產品應用 :  WB=1:500-2000 ELISA=1:500-1000  

not yet tested in other applications.

optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  71kDa

細胞定位 :  細胞漿

性    狀 :  Lyophilized or Liquid

濃    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human Galactocerebroside:301-400/685

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.

PubMed :  PubMed

產品介紹 :   Galactosylceramidase hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. It is an enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. It shows highest level of activity in testes compared to brain, kidney, placenta and liver. It can also be found in urine. Defects in Galactosylceramidase are the cause of globoid cell leukodystrophy (GLD); also known as Krabbe disease. This autosomal recessive disorder results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Clinically, the most frequent form is the infantile form. Most patients (90%) present before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. However, a significant number of cases with later onset, presenting with unexplained blindness, weakness and/or progressive motor, and sensory neuropathy that can progress to severe mental incapacity and death, have been identified.

Function:

Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon.

Subcellular Location:

Lysosomal.

Tissue Specificity:

Highest level of activity in testes compared to brain, kidney, placenta and liver. Can also be found in urine.

Similarity:

Belongs to the glycosyl hydrolase 59 family.

SWISS:

P54803

Gene ID:

2581

Important Note:

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

產品圖片