Total Hexb Cell-Based Colorimetric ELISA Kit
- 货号：KA3527C
- 应用：ELISA
- 种属：Human
- 其他名称：
- Beta-hexosaminidase subunit beta (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit beta) (Hexosaminidase subunit B) (Cervical cancer proto-oncogene 7 protein) (HCC-7) (N-acetyl-beta-glucosaminidase subunit beta) [Cleaved into: Beta-hexosaminidase subunit beta chain B;Beta-hexosaminidase subunit beta chain A]
- 背景：
- catalytic activity:Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.,disease:Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2) [MIM:268800]; also known as Sandhoff disease. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G2 is clinically indistinguishable from GM2-gangliosidosis type 1, presenting startle reactions, early blindness, progressive motor and mental deterioration, macrocephaly and cherry-red spots on the macula.,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.,online information:HEXB mutation database,PTM:N-linked glycans at Asn-142 and Asn-190 consist of Man(3)-GlcNAc(2) and Man(5 to 7)-GlcNAc(2), respectively.,PTM:The beta-A and beta-B chains are produced by proteolytic processing of the precursor beta chain.,similarity:Belongs to the glycosyl hydrolase 20 family.,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 an homodimer of two alpha subunits. The two beta chains are derived from the cleavage of the beta subunit.,
- 功能：
- skeletal system development, regulation of action potential, ganglioside metabolic process, polysaccharide metabolic process, monosaccharide metabolic process, aminoglycan metabolic process, amino sugar metabolic process,glucosamine metabolic process, N-acetylglucosamine metabolic process, membrane lipid metabolic process,phospholipid metabolic process, glycolipid metabolic process, sphingolipid metabolic process, ceramide metabolic process, glycosphingolipid metabolic process, ganglioside catabolic process, cellular ion homeostasis, cellular calcium ion homeostasis, cellular metal ion homeostasis, vacuole organization, lysosome organization, ensheathment of neurons, gamete generation, female gamete generation, single fertilization, penetration of zona pellucida, sensory perception, sensory perception of sound, behavior, mating behavior, mating, courtship behavior, locomotory behavior,ma
- 细胞定位：
- Lysosome . Cytoplasmic vesicle, secretory vesicle, Cortical granule .
