Human Beta-hexosaminidase subunit beta ELISA Kit | HEXB elisa kit

Human Beta-hexosaminidase subunit beta ELISA Kit

Cat. Num. AAA763654

• Gene Names: HEXB; ENC-1AS; HEL-248; HEL-S-111
• Reactivity: Human
• Synonyms: Beta-hexosaminidase subunit beta; Human Beta-hexosaminidase subunit beta ELISA Kit; HEXB/ENC-1AS/N-acetyl-beta-glucosaminidase subunit beta/Beta-N-acetylhexosaminidase subunit beta (Hexosaminidase subunit B)/Cervical cancer proto-oncogene 7 protein (HCC-7)/ENC-1AS/HCC-7/HEL-248/beta-hexosaminidase subunit beta/Beta-N-acetylhexosaminidase subunit beta/Cervical cancer proto-oncogene 7 protein/hexosaminidase B (beta polypeptide)/Hexosaminidase subunit B/N-acetyl-beta-glucosaminidase subunit beta; HEXB elisa kit

• Reactivity: Human
• Specificity: This assay has high sensitivity and excellent specificity for detection of HEXB. No significant cross-reactivity or interference between HEXB and analogues was observed.
• Sequence Length: 556

• Samples: Serum, plasma, tissue homogenates and other biological fluids
• Assay Type: Quantitative Sandwich
• Detection Range: 1.563-100IU/ml
• Sensitivity: 0.938IU/ml
• Intra-assay Precision: CV<8%
• Inter-assay Precision: CV<10%
• Preparation and Storage: Store at 4 degree C if kit is to be used within 1 week. Stable for 6 months (if micro ELISA Plate, Lyophilized Standard and Concentrated Biotinylated Detection Protein stored at-20 degree C. Other components at 2-8 degree C). Stable for 12 months (if the entire kit is stored at-20 degree C).

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for HEXB elisa kit

Principle of the Assay: This kit was based on sandwich enzyme-linked immune-sorbent assay technology. Capture antibody was pre-coated onto 96-well plates. And the biotin conjugated antibody was used as detection antibodies. The standards, test samples and biotin conjugated detection antibody were added to the wells subsequently, and washed with wash buffer. HRP-Streptavidin was added and unbound conjugates were washed away with wash buffer. TMB substrates were used to visualize HRP enzymatic reaction. TMB was catalyzed by HRP to produce a blue color product that changed into yellow after adding acidic stop solution. The density of yellow is proportional to the target amount of sample captured in plate. Read the O.D. absorbance at 450nm in a microplate reader, and then the concentration of target can be calculated.

NCBI and Uniprot Product Information

• NCBI GI #: 4504373
• NCBI GeneID: 3074
• NCBI Accession #: NP_000512.1
• NCBI GenBank Nucleotide #: NM_000521.3
• Molecular Weight: 63,111 Da
• NCBI Official Full Name: beta-hexosaminidase subunit beta isoform 1 preproprotein
• NCBI Official Synonym Full Names: hexosaminidase subunit beta
• NCBI Official Symbol: HEXB
• NCBI Official Synonym Symbols: ENC-1AS; HEL-248; HEL-S-111
• NCBI Protein Information: beta-hexosaminidase 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). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

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

Chromosomal Location of Human Ortholog: 5q13

Cellular Component: acrosome; azurophil granule; lysosomal lumen; membrane

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

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

Disease: Sandhoff Disease