ELISA/assay

Human Beta-hexosaminidase subunit alpha, HEXA ELISA Kit

MBS924797

48-Strip-Wells

510 USD

ELISA Kit

Human Beta-hexosaminidase subunit alpha, HEXA ELISA Kit

hexosaminidase A (alpha polypeptide)

Human Beta-hexosaminidase subunit alpha (HEXA) ELISA kit; MGC99608; TSD; N-acetyl-beta-glucosaminidase; beta-N-acetylhexosaminidase; hexosaminidase A; hexosaminidase A (alpha polypeptide)

beta-hexosaminidase subunit alpha preproprotein; Beta-hexosaminidase subunit alpha; beta-hexosaminidase subunit alpha; hexosaminidase subunit A; beta-N-acetylhexosaminidase subunit alpha; N-acetyl-beta-glucosaminidase subunit alpha; hexosaminidase A (alpha polypeptide); Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha

HEXA

HEXA; HEXA; TSD; Hexosaminidase subunit A

HEXA_HUMAN

Human

529

This assay has high sensitivity and excellent specificity for detection of human HEXA. No significant cross-reactivity or interference between human HEXA and analogues was observed.

Unopened test kits should be stored at 2 to 8 degree C upon receipt. Please refer to pdf manual for further storage instructions.

Samples: Serum, plasma, tissue homogenates, Cell lysates. Assay Type: Sandwich. Detection Range: 15.6 pg/ml -1000 pg/ml. Sensitivity: The minimum detectable dose of human HEXA is typically less than 3.9 pg/ml. The sensitivity of this assay, or Lower Limit of Detection (LLD) was defined as the lowest protein concentration that could be differentiated from zero. It was determined the mean O.D value of 20 replicates of the zero standard added by their three standard deviations.

Intra-assay Precision: Intra-assay Precision (Precision within an assay): CV%<8%. Three samples of known concentration were tested twenty times on one plate to assess. Inter-assay: Inter-assay Precision (Precision between assays): CV%<10%. Three samples of known concentration were tested in twenty assays to assess.

Principle of the assay: This assay employs the quantitative sandwich enzyme immunoassay technique. Antibody specific for HEXA has been pre-coated onto a microplate. Standards and samples are pipetted into the wells and any HEXA present is bound by the immobilized antibody. After removing any unbound substances, a biotin-conjugated antibody specific for HEXA is added to the wells. After washing, avidin conjugated Horseradish Peroxidase (HRP) is added to the wells. Following a wash to remove any unbound avidin-enzyme reagent, a substrate solution is added to the wells and color develops in proportion to the amount of HEXA bound in the initial step. The color development is stopped and the intensity of the color is measured.

189181666

NP_000511.2

NM_000520.4

P06865

60,703 Da

Amino Sugar And Nucleotide Sugar Metabolism Pathway (82979); Amino Sugar And Nucleotide Sugar Metabolism Pathway (350); Glycosaminoglycan Degradation Pathway (82981); Glycosaminoglycan Degradation Pathway (355); Glycosphingolipid Biosynthesis - Ganglio Series Pathway (82997); Glycosphingolipid Biosynthesis - Ganglio Series Pathway (372); Glycosphingolipid Biosynthesis - Globo Series Pathway (82996); Glycosphingolipid Biosynthesis - Globo Series Pathway (371); Glycosphingolipid Metabolism Pathway (530751); Keratan Sulfate Degradation Pathway (413378)

This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]

HEXA: 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. Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1); 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 adult (late onset). Belongs to the glycosyl hydrolase 20 family. Protein type: Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Glycan Metabolism - other glycan degradation; Hydrolase; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Glycan Metabolism - glycosaminoglycan degradation; EC 3.2.1.52; Carbohydrate Metabolism - amino sugar and nucleotide sugar. Chromosomal Location of Human Ortholog: 15q24.1. Cellular Component: lysosomal lumen; membrane. Molecular Function: protein heterodimerization activity; beta-N-acetylhexosaminidase activity. Biological Process: keratan sulfate metabolic process; chondroitin sulfate metabolic process; sphingolipid metabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; chondroitin sulfate catabolic process; glycosphingolipid metabolic process; pathogenesis; keratan sulfate catabolic process; hyaluronan metabolic process; hyaluronan catabolic process. Disease: Tay-sachs Disease

48-Strip-Wells

510 USD

96-Strip-Wells

725

5x96-Strip-Wells

2565

10x96-Strip-Wells

4800