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GALC (基因名), Galactocerebrosidase (蛋白名), galc_human.
产品名称:

Human GALC/ Galactocerebrosidase Recombinant Protein
Galactocerebrosidase

货号:

R15006h

商标:
EIAab®
监管等级:
别名:

Galactocerebroside beta-galactosidase, Galactosylceramidase, Galactosylceramide beta-galactosidase, GALCERase

序列号:
P54803
来源:
E.coli
种属:
Human
标签:
His
序列:
Recombinant Protein
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
Cardiovascular
Human GALC Protein
规格 & 价格: cart
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Human GALC Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS
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R&D 技术数据
更多信息,请参阅手册,或联系我们的技术支持: tech@eiaab.com.
基因位点
Cytogenetic band: 14q31.3 by HGNC 14q31.3 by Entrez Gene 14q31.3 by Ensembl
GALC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
N/A


功能:
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.


亚细胞位置:
Lysosome


该产品尚未在任何出版物中被引用。

[1].
"A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region."

[2].
"Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease."

[3].
"Krabbe disease: genetic aspects and progress toward therapy."

[4].
"Molecular heterogeneity of Krabbe disease."

[5].
"Molecular basis of late-life globoid cell leukodystrophy."

[6].
"Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization."

[7].
"Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients."

[8].
"Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications."

[9].
"Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel."

[10].
"Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy."
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