HEXB

Beta-hexosaminidase subunit beta ;
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]

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.,

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,male courtship behavior, axon ensheathment, lipid biosynthetic process, phospholipid biosynthetic process,oligosaccharide metabolic process, oligosaccharide catabolic process, fertilization, lipid localization, lipid catabolic process, carbohydrate catabolic process, reproductive behavior, transmission of nerve impulse, regulation of action potential in neuron, glycolipid catabolic process, organophosphate metabolic process, cellular homeostasis, lipid storage, sexual reproduction, cellular cation homeostasis, cellular di-, tri-valent inorganic cation homeostasis,sphingolipid catabolic process, glycosaminoglycan metabolic process, multicellular organism reproduction, reproductive behavior in a multicellular organism, regulation of membrane potential, myelination, homeostatic process, cellular lipid catabolic process, membrane lipid catabolic process, glycosphingolipid catabolic process, sphingoid metabolic process,oogenesis, reproductive process in a multicellular organism, chemical homeostasis, ion homeostasis, neurological system process, neuromuscular process controlling balance, cognition, neuromuscular process, sensory perception of mechanical stimulus, behavioral interaction between organisms, metal ion homeostasis, di-, tri-valent inorganic cation homeostasis, calcium ion homeostasis, cation homeostasis, cellular chemical homeostasis, male mating behavior,

Lysosome . Cytoplasmic vesicle, secretory vesicle, Cortical granule .