There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations. (wikipedia.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)
Lysosomal2
The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. (wikipedia.org)
Testing for lysosomal storage diseases (particularly for arylsulfatase A, galactosylceramide beta-galactosidase, and hexosaminidase), Salla disease (urine sialic acid), and adrenoleukodystrophy (very ̶ long-chain fatty acids) should be done to exclude these disorders. (medscape.com)
Chromosome1
Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome. (wikipedia.org)
Subunits6
Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze GM2 gangliosides. (wikipedia.org)
EC 3.2.1.52), the beta subunits of Hex A (EC 3.2.1.52), and the G M2 activator protein. (medscape.com)
Beta-crystallins exist as oligomers formed from acidic (BETA-CRYSTALLIN A CHAIN) and basic (BETA-CRYSTALLIN B CHAIN) subunits. (lookformedical.com)
The proteins exist as large oligomers that are formed from ALPHA-CRYSTALLIN A CHAIN and ALPHA-CRYSTALLIN B CHAIN subunits. (lookformedical.com)
The hexA and hexB genes encode the alpha- and beta-subunits of the two major beta-N-acetylhexosaminidase isoenzymes, N-acetyl-beta-D-hexosaminidase A (HexA) and beta-N-acetylhexosaminidase B (HexB). (unl.edu)
Both the alpha and the beta catalytic subunits have a TIM-barrel fold and belong to the glycosyl hydrolase family 20 (GH20). (unl.edu)
Proteins3
A functionally uncharacterized subgroup of the Glycosyl hydrolase family 20 (GH20) catalytic domain found in proteins similar to the chitobiase of Serratia marcescens, a beta-N-1,4-acetylhexosaminidase that hydrolyzes the beta-1,4-glycosidic linkages in oligomers derived from chitin. (unl.edu)
[2] [3] The cells within the biofilm produce the EPS components, which are typically a polymeric conglomeration of extracellular polysaccharides , proteins , lipids and DNA . (wikipedia.org)
In the mammalian epithelial cell sheet, TJs regulate molecular transport within the intercellular space and independent compartments of proteins and lipids localized to apical and basolateral membranes [4,5]. (synanet2020.com)
Enzyme6
The GH20 hexosaminidases are thought to act via a catalytic mechanism in which the catalytic nucleophile is not provided by the solvent or the enzyme, but by the substrate itself. (unl.edu)
β-galactosidase , also called lactase , beta-gal or β-gal , is a glycoside hydrolase enzyme that catalyzes the hydrolysis of β-galactosides into monosaccharides through the breaking of a glycosidic bond . (wikidoc.org)
Many adult humans lack the lactase enzyme, which has the same function of beta-gal, so they are not able to properly digest dairy products. (wikidoc.org)
Beta-galactose is used in such dairy products as yogurt, sour cream, and some cheeses which are treated with the enzyme to break down any lactose before human consumption. (wikidoc.org)
7a-hydroxycholesterol then becomes 7a-hydroxy-cholestene-3-one, which is made possible by the enzyme 3-beta-hydroxysteroid dehydrogenase type 7. (smpdb.ca)
The first, continuing in the liver, uses the enzyme 3-oxo-5-beta-steroid-4-deydrogenase to become 7a-hydroxy-5b-cholestan-3-one. (smpdb.ca)
Isoenzymes1
Pediatric reference data on activity of urinary N-acetyl-beta-D-hexosaminidase and its isoenzymes. (edu.pl)
Water-soluble1
A site on the alpha subunit acts against negatively charged sulfated substrates, while a site on the beta subunit acts against neutral water-soluble substrates. (medscape.com)
Substrates1
TMDs are embedded in the lipid bilayer with NBDs located in the cytosol, thus having access to cellular stores of ATP that can fuel the export of substrates. (unscburma.org)
The loop is absent in the beta subunit, but it serves as an ideal structure for the binding of the GM2 activator proteinM2(GM2AP) in the alpha subunit. (wikipedia.org)
Quantitative polymera1
No differences were observed between groups receiving ISG or placebo in the incidence time-course or magnitude of viremia measured by quantitative polymerase chain reaction. (biongenex.com)
HEXA1
The alpha subunit polypeptide is encoded by the HEXA gene while the beta subunit is encoded by the HEXB gene. (wikipedia.org)
Polysaccharides1
In this study we investigated the effects of changing the supramolecular configuration of mannuronan and O-chain polysaccharides from LPS by covalently linking them to particles. (biotech2012.org)
Cleave1
Notably, cln5 - cells displayed reduced β-hexosaminidase activity, which aligns with previous work showing that D. discoideum Cln5 and human CLN5 can cleave the substrate acted upon by β-hexosaminidase. (frontiersin.org)
Serum2
Beta 2-microglobulin is present in small amounts in serum, csf, and urine of normal people, and to a much greater degree in the urine and plasma of patients with tubular proteinemia, renal failure, or kidney transplants. (lookformedical.com)
Reference data on neonatal serum N-acetyl-beta-hexosaminidase activity. (edu.pl)
Amino1
The order of amino acids as they occur in a polypeptide chain. (lookformedical.com)
Accumulation1
Spatial lipidomics revealed an accumulation of highly unsaturated and shortened lipids and reduction of sphingolipids throughout the brains of cPSAP DAT mice. (nature.com)
Polypeptide1
Mammalian P-gp homologs arise from the folding of a single polypeptide chain that is transcribed and translated in the order: (N-term) TMD1-NBD1-TMD2-NBD2 (C-term). (unscburma.org)
When lipid A occurs in a cubic or inverted hexagonal structure, increased cytokine induction is usually observed, whereas a lamellar structure gives PTPRC no cytokine induction (34). (biotech2012.org)
Gene3
One study, done on mice, successfully reestablished beta-hexoaminidase levels and removed the toxic cell buildup by using a non-replicated Herpes simplex vector to code for the missing gene. (wikipedia.org)
the beta subunit is encoded by the HEXB gene at band 5q13. (medscape.com)
In recent years, beta-galactosidase has been researched as a potential treatment for lactose intolerance through gene replacement therapy where it could be placed into the human DNA so individuals can break down lactose on their own. (wikidoc.org)
Subunit4
Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. (wikipedia.org)
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. (wikipedia.org)
They showed that PSAP loss triggers global lipid alterations and induces ferroptosis selectively in neurons 21 . (nature.com)
Hydrolyzes1
The chitobiase of Serratia marcescens is a beta-N-1,4-acetylhexosaminidase with a glycosyl hydrolase family 20 (GH20) domain that hydrolyzes the beta-1,4-glycosidic linkages in oligomers derived from chitin. (unl.edu)
Beta-N-acetylhexosaminidases of glycosyl hydrolase family 20 (GH20) catalyze the removal of beta-1,4-linked N-acetyl-D-hexosamine residues from the non-reducing ends of N-acetyl-beta-D-hexosaminides including N-acetylglucosides and N-acetylgalactosides. (unl.edu)
Dimer2
Hex A is a dimer and has the structure alpha-beta. (medscape.com)
β-Hexosaminidase B (Hex B) is a dimer of beta chains. (medscape.com)
Activity1
Although lipid A has been shown to induce many of the characteristic properties of LPS, the presence of 2-keto-3-deoxyoctonic acid sugars may potentiate the biological activity of LPS (16, 30). (biotech2012.org)
Alpha1
Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)
Human1
1997 which travel proliferation of pro-T cells to yield a human population of cells several enough to generate a broad repertoire of TCR β chains. (biongenex.com)
Hydrolase1
A few are evolved beta-galactosidase (EBG), beta-glucosidase , 6-phospho-beta-galactosidase, beta-mannosidase, and lactase-phlorizin hydrolase. (wikidoc.org)
Cells1
They, furthermore, control the expression of cytokines and chemokines as well as transcription factors such as nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) (Bekhbat et al. (niepokorny.org)
Structure1
Gamma-crystallins are similar in structure to BETA-CRYSTALLINS in that they both form into a Greek key-like structure. (lookformedical.com)
Similar2
Beta-galactosidase has many homologues based on similar sequences. (wikidoc.org)
Revisiting 7a-hydroxy-cholestene-3-one, the second chain of reactions it is involved in follows a similar path as the first, moving through the mitochondria, endoplasmic reticulum and peroxisome until choloyl-CoA is formed, which then is used in three reactions so that its derivatives may leave the cell to interact with intestinal microflora and become taurodeoxycholic acid, deoxycholic acid glycine conjugate and deoxycholic acid. (smpdb.ca)
Transport1
Association with beta 2-microglobulin is generally required for the transport of class I heavy chains from the endoplasmic reticulum to the cell surface. (lookformedical.com)
Association1
Association of cerebral amyloid-beta aggregation with cognitive functioning in persons without dementia. (edu.pl)