HEXB active protein

HEXB Protein, Human, Recombinant (His Tag)

Cat. Num. AAA8121307

• Gene Names: HEXB; ENC-1AS
• Purity: >95% as determined by SDS-PAGE
• Synonyms: HEXB; HEXB Protein; Human; Recombinant (His Tag); Human Hexosaminidase B/HEXB Protein (His Tag); ENC-1AS Protein; HEL-248 Protein; hexosaminidase B (beta polypeptide); HEXB active protein

• Host: HEK293 Cells
• Purity/Purification: >95% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Ala43-Met556

• Species: Human
• Activity: Measured by its ability to hydrolyze 4methylumbelliferylNacetylbetaDglucosaminide(4MUGlcNAc). The specific activity is >3000 pmols/min/ug
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: Ala 43
• Tag: C-His
• Protein Construction: A DNA sequence encoding the human HEXB (P07686)(Ala43-Met556) was expressed with a C-terminal polyhistidine tag.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

NCBI and Uniprot Product Information

• NCBI GI #: 4504373
• NCBI GeneID: 3074
• NCBI Accession #: NP_000512.1
• NCBI GenBank Nucleotide #: NM_000521.3
• UniProt Accession #: P07686
• Molecular Weight: 63,111 Da
• NCBI Official Full Name: beta-hexosaminidase subunit beta preproprotein
• NCBI Official Synonym Full Names: hexosaminidase B (beta polypeptide)
• NCBI Official Symbol: HEXB
• NCBI Official Synonym Symbols: ENC-1AS
• NCBI Protein Information: beta-hexosaminidase subunit beta; HCC-7; hexosaminidase subunit B; beta-N-acetylhexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; N-acetyl-beta-glucosaminidase subunit beta
• UniProt Protein Name: Beta-hexosaminidase subunit beta
• Protein Family: Beta-hexosaminidase
• UniProt Gene Name: HEXB
• UniProt Synonym Gene Names: Hexosaminidase subunit B; HCC-7
• UniProt Entry Name: HEXB_HUMAN

NCBI Description

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). [provided by RefSeq, Jul 2008]

Uniprot Description

HEXB: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. Defects in HEXB are the cause of GM2-gangliosidosis type 2 (GM2G2); 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. Belongs to the glycosyl hydrolase 20 family.

Protein type: Glycan Metabolism - other glycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; EC 3.2.1.52; Carbohydrate Metabolism - amino sugar and nucleotide sugar

Chromosomal Location of Human Ortholog: 5q13

Cellular Component: lysosomal lumen; membrane; acrosome

Molecular Function: protein homodimerization activity; protein heterodimerization activity; beta-N-acetylhexosaminidase activity

Biological Process: myelination; keratan sulfate metabolic process; oogenesis; male courtship behavior; glycosaminoglycan metabolic process; ganglioside catabolic process; locomotory behavior; pathogenesis; hyaluronan catabolic process; regulation of cell shape; oligosaccharide catabolic process; sequestering of lipid; sensory perception of sound; chondroitin sulfate catabolic process; penetration of zona pellucida; keratan sulfate catabolic process; neuromuscular process controlling balance; skeletal development; sphingolipid metabolic process; phospholipid biosynthetic process; cellular calcium ion homeostasis; chondroitin sulfate metabolic process; cellular protein metabolic process; lysosome organization and biogenesis; carbohydrate metabolic process; positive regulation of transcription from RNA polymerase II promoter; glycosphingolipid metabolic process; hyaluronan metabolic process; astrocyte cell migration

Disease: Sandhoff Disease