HEXAEnzymeGangliosidosisMutationsAssaySandhoffMetabolismGangliosideGeneActivator proteinSubunitsDiseaseEnzymesActivityVariantMutationDimerUrineExpressionCellsBloodBrainDeficiencyBeta-hexosaminidasesHEXBLysosomal hexosaminidaseSerumLysosomesGenesGeneticsActivatorHistamineProteinsCatalyticGeneticallyFunctionalReleaseHuman
HEXA1
- Two of these are due to the deficiency of the heterodimeric (α-β), "A" isoenzyme of lysosomal β-hexosaminidase (HexA). (nih.gov)
Enzyme6
- The GM2 activator proteinM2transports GM2 gangliosides and presents the lipids to hexosaminidase, so a functional hexosaminidase enzyme is able to hydrolyze GM2 gangliosides into GM3 gangliosides by removing the N-acetylgalactosamine (GalNAc) residue from GM2 gangliosides. (wikipedia.org)
- This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. (medlineplus.gov)
- The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A. This enzyme is required to break down the fatty substance GM2 gangliosideM2 (sparrow.org)
- The blood test checks the levels of hexosaminidase A enzyme in the blood. (sparrow.org)
- TDS is particularly caused by inadequate activity of the hexosaminidase 'A' enzyme. (write-right.net)
- The mouse used here has mutation in a gene that makes the housekeeping enzyme hexosaminidase ("hex") deficient and, therefore, has Sandhoff's Disease, a lethal genetic disease related to Tay-Sachs Disease. (sciencedaily.com)
Gangliosidosis1
- Type AB G M2 gangliosidosis is also known as hexosaminidase activator deficiency. (medscape.com)
Mutations2
- There are numerous mutations that lead to hexosaminidase deficiency including gene deletions, nonsense mutations, and missense mutations. (wikipedia.org)
- Mutations in the GM2A gene disrupt the activity of the GM2 gangliosideM2activator, which prevents beta-hexosaminidase A from breaking down GM2 gangliosideM2 (medlineplus.gov)
Assay2
- Hexosaminidase Activity Assay, 100 tests - 1 kit is backordered and will ship as soon as it is back in stock. (dnamethsoc.com)
- Using a β-hexosaminidase release assay, several drugs were seen to cause mast cell degranulation in vitro in comparison with unstimulated cells, but only morphine, vancomycin and cisatracurium specifically triggered this receptor, as assessed by the release of β-hexosaminidase in the control versus the MRGPRX2-silenced cells. (cun.es)
Sandhoff1
- Hereditary inability to form functional hexosaminidase enzymes are the cause of lipid storage disorders Tay-Sachs disease and Sandhoff disease. (wikipedia.org)
Metabolism1
- inherited disorders of metabolism, caused by hexosaminidase deficiency that causes severe neurologic symptoms and early death. (msdmanuals.com)
Ganglioside1
- Within lysosomes, the activator protein binds to a fatty substance called GM2 gangliosideM2and presents it to beta-hexosaminidase A to be broken down. (medlineplus.gov)
Gene2
- The two subunits of hexosaminidase A are shown below: The bifunctional protein NCOAT (nuclear cytoplasmic O-GlcNAcase and acetyltransferase) that is encoded by the MGEA5 gene possesses both hexosaminidase and histone acetyltransferase activities. (wikipedia.org)
- NCOAT is also known as hexosaminidase C and has distinct substrate specificities compared to lysosomal hexosaminidase A. A single-nucleotide polymorphism in the human O-GlcNAcase gene is linked to diabetes mellitus type 2. (wikipedia.org)
Activator protein1
- β-Hexosaminidase and the cofactor GM2 activator proteinM2catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. (wikipedia.org)
Subunits1
- Even though the α and β subunits of lysosomal hexosaminidase can both cleave GalNAc residues, only the α subunit is able to hydrolyze GM2 gangliosides because of a key residue, Arg-424, and a loop structure that forms from the amino acid sequence in the alpha subunit. (wikipedia.org)
Disease3
- Tay-Sachs disease occurs when hexosaminidase A loses its ability to function. (wikipedia.org)
- Compared to an apparently healthy control population, 32/35 patients with widely disseminated disease showed elevated values and 18/23 patients with disease confined to the chest had normal hexosaminidase values. (nebraska.edu)
- Detailed studies of 18 patients indicated that declining hexosaminidase values were associated with effective therapy, rising values generally accompanied progressive disease. (nebraska.edu)
Enzymes1
- Functional lysosomal β-hexosaminidase enzymes are dimeric in structure. (wikipedia.org)
Activity3
- Hexosaminidase for Activity is available from Karlan upon request. (dnamethsoc.com)
- Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells. (stembook.org)
- The specific activity of urinary hexosaminidase was determined in 58 patients with various histological types of lung carcinoma. (nebraska.edu)
Variant1
- It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. (curehunter.com)
Mutation1
- It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. (curehunter.com)
Dimer1
- β-Hexosaminidase B (Hex B) is a dimer of beta chains. (medscape.com)
Urine1
- Elevated levels of hexosaminidase in blood and/or urine have been proposed as a biomarker of relapse in the treatment of alcoholism. (wikipedia.org)
Expression3
- Violin plots show distribution of expression levels for Beta-hexosaminidase (SMED30033380) in cells (dots) of each of the 12 neoblast clusters. (stowers.org)
- Expression of Beta-hexosaminidase (SMED30033380) in the t-SNE clustered sub-lethally irradiated X1 and X2 cells. (stowers.org)
- Analysis of GFP expression driven by Caenorhabditis hexosaminidase promoters. (boku.ac.at)
Cells1
- TF extract decreased β -hexosaminidase release in RBL-2H3 cells. (hindawi.com)
Blood1
- Routine haematological and biochemical blood tests were normal, as were levels of vitamin B 12 , folate, very long chain fatty acids, hexosaminidase, copper, and HTLV1 antibodies. (bmj.com)
Brain1
- Deficiency of hexosaminidase A results in accumulation of GM2 in the brain. (msdmanuals.com)
Deficiency11
- There are numerous mutations that lead to hexosaminidase deficiency including gene deletions, nonsense mutations, and missense mutations. (wikipedia.org)
- These diseases result from a deficiency of lysosomal enzyme ß- hexosaminidase A (HexA), which is responsible for GM2 gangliosideM2degradation. (bvsalud.org)
- Hexosaminidase activator deficiency is caused by absence or defects of the hexosaminidase activator. (medscape.com)
- Type AB G M2 gangliosidosis is also known as hexosaminidase activator deficiency. (medscape.com)
- Kaback MM. Hexosaminidase A Deficiency. (epnet.com)
- 10. Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review. (nih.gov)
- inherited disorders of metabolism, caused by hexosaminidase deficiency that causes severe neurologic symptoms and early death. (msdmanuals.com)
- Deficiency of hexosaminidase A results in accumulation of GM2 in the brain. (msdmanuals.com)
- There is a combined hexosaminidase A and B deficiency. (msdmanuals.com)
- The documented enzyme deficiency should support a genetically confirmed diagnosis of GM2-gangliosidosis caused by beta-hexosaminidase deficiency resulting from mutations in the HEXA or HEXB genes. (nih.gov)
- The accumulation of GM 2 (due to a deficiency in beta-hexosaminidase) has characterized Tay-Sachs disease (due to a mutation in the gene HEXA) and Sandhoff disease (due to a mutation in the gene HEXB). (matreya.com)
Beta-hexosaminidases4
- Human lysosomal beta-hexosaminidases remove terminal beta-glycosidically bound N-acetylhexosamine residues from a number of glycoconjugates. (nih.gov)
- 18. Serum beta-hexosaminidases in pregnancy. (nih.gov)
- This domain represents the N terminal domain in chitobiases and beta-hexosaminidases EC:3.2.1.52. (embl-heidelberg.de)
- This domain is found in the N terminus of chitobiases and beta-hexosaminidases. (embl-heidelberg.de)
HEXB3
- Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Mouse Hexosaminidase B Beta (HEXb) in serum, plasma, tissue homogenates and other biological fluids. (srbiosystem.com)
- Description: A sandwich quantitative ELISA assay kit for detection of Rat Hexosaminidase B Beta (HEXb) in samples from serum, plasma, tissue homogenates or other biological fluids. (srbiosystem.com)
- One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning beta-hexosaminidase A enzyme. (medlineplus.gov)
Lysosomal hexosaminidase3
- Even though the α and β subunits of lysosomal hexosaminidase can both cleave GalNAc residues, only the α subunit is able to hydrolyze GM2 gangliosides because of a key residue, Arg-424, and a loop structure that forms from the amino acid sequence in the alpha subunit. (wikipedia.org)
- NCOAT is also known as hexosaminidase C and has distinct substrate specificities compared to lysosomal hexosaminidase A. A single-nucleotide polymorphism in the human O-GlcNAcase gene is linked to diabetes mellitus type 2. (wikipedia.org)
- 19. The lysosomal hexosaminidase isozymes. (nih.gov)
Serum1
- Description: A sandwich ELISA kit for detection of Hexosaminidase B Beta from Mouse in samples from blood, serum, plasma, cell culture fluid and other biological fluids. (srbiosystem.com)
Lysosomes1
- Within lysosomes, beta-hexosaminidase A forms part of a complex that breaks down a fatty substance called GM2 gangliosideM2found in cell membranes. (medlineplus.gov)
Genes1
- Assignment of genes encoding dihydrofolate reductase and hexosaminidase B to Mus musculus chromosome 13. (nih.gov)
Genetics1
- 2. The biochemical genetics of the hexosaminidase system in man. (nih.gov)
Activator2
- β-Hexosaminidase and the cofactor GM2 activator proteinM2catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. (wikipedia.org)
- The GM2 activator proteinM2transports GM2 gangliosides and presents the lipids to hexosaminidase, so a functional hexosaminidase enzyme is able to hydrolyze GM2 gangliosides into GM3 gangliosides by removing the N-acetylgalactosamine (GalNAc) residue from GM2 gangliosides. (wikipedia.org)
Histamine1
- AEDK inhibited the release of histamine and β-hexosaminidase from mast cells by modulating cAMP and intracellular calcium levels. (spandidos-publications.com)
Proteins1
- MS revealed that phycocyanin and the core-membrane linker peptide are the responsible allergens, and MC(-) extracts containing these proteins induced β-hexosaminidase release in rat basophil leukemia cells. (nih.gov)
Catalytic1
- The GH20 hexosaminidases are thought to act via a catalytic mechanism in which the catalytic nucleophile is not provided by solvent or the enzyme, but by the substrate itself. (unl.edu)
Genetically1
- Increasing ß-hexosaminidase A activity using genetically modified mesenchymal stem cells. (bvsalud.org)
Functional1
- Functional lysosomal β-hexosaminidase enzymes are dimeric in structure. (wikipedia.org)
Release1
- hexosaminidase release assay to examine the inhibitory effects of fCD23. (ncl.edu.tw)
Human3
- 1. The expression of hex A and hex B isozymes of hexosaminidase in parental and experimental human fibroblast cells and their components. (nih.gov)
- 13. beta-hexosaminidase in cultured normal and mutant human fibroblasts: an immunohistochemical and biochemical investigation. (nih.gov)
- 17. Human hexosaminidase isozymes: chromatographic separation as an aid to heterozygote identification. (nih.gov)