β氨基己糖苷酶A抗体
规格：1mg/1ml
英文名： HEXA
别名： Beta hexosaminidase alpha chain precursor; Beta hexosaminidase subunit alpha; Beta N acetylhexosaminidase; Beta N acetylhexosaminidase subunit alpha; Beta-hexosaminidase subunit alpha; Beta-N-acetylhe
分子量： 51kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Beta hex
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞浆
β氨基己糖苷酶A抗体产品介绍：background: Hexosaminidase A (HEXA), also designated beta-Hexosaminidase A, is a trimer composed of one å chain, one ∫-A chain and one ∫-B chain and is found in the lysosomes of cells. HEXA, along with the cofactor CM2 activator protein, catalyzes the degradation of GM2 ganglioside and other molecules containing terminal N-acetyl hexosamines in the brain and other tissues. A mutation in the å subunit of hexosaminidase is the cause of Tay-Sachs disease (TSD), also known as GM2-gangliosidosis type I. TSD is a fatal autosomal recessive lysosomal storage disease of the central nervous system (CNS) caused by insufficient activity of the HEXA enzyme that results in a failure to process GM2 gangliosides. The accumulation of GM2 ganglioside in the absence of HEXA activity causes progressive destruction of the CNS.β氨基己糖苷酶A抗体 Function: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. Subunit: There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer composed of one subunit alpha, one subunit beta chain A and one subunit beta chain B; hexosaminidase B is a tetramer of two subunit beta chains A and two subunit beta chains B; hexosaminidase S is a homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit. Subcellular Location: Lysosome. Post-translational modifications:β氨基己糖苷酶A抗体 N-linked glycan at Asn-115 consists of Man(3)-GlcNAc(2). DISEASE: Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]; also known as Tay-Sachs disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and ***** (late onset). Similarity: Belongs to the glycosyl hydrolase 20 family. Database links: Entrez Gene: 3073 Human Omim: 606869 Human SwissProt: P06865 Human Unigene: 604479 Human Unigene: 709495 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
β氨基己糖苷酶A抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 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.
研究领域：细胞生物 神经生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid