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  home news about dmdm database statistics research publications contact     click for a larger image   domain name: gh20_hexa_hexb-like cd06562 beta-n-acetylhexosaminidases 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. 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). buy cheap generic cialis online Both the alpha and the beta catalytic subunits have a tim-barrel fold and belong to the glycosyl hydrolase family 20 (gh20). The hexa enzyme is a heterodimer containing one alpha and one beta subunit while the hexb enzyme is a homodimer containing two beta-subunits. Hexosaminidase mutations cause an inability to properly hydrolyze certain sphingolipids which accumulate in lysosomes within the brain, resulting in the lipid storage disorders tay-sachs and sandhoff. discount generic cialis Mutations in the alpha subunit cause in a deficiency in the hexa enzyme and result in tay-sachs, mutations in the beta-subunit cause in a deficiency in both hexa and hexb enzymes and result in sandhoff disease. cheap cialis india In both disorders gm(2) gangliosides accumulate in lysosomes. 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. No pairwise interactions are available for this conserved domain. buy cheap generic cialis online Total mutations found: 59 total disease mutations found: 50   beta-hexosaminidase a, pseudodeficiency of   gm2-gangliosidosis type 1 (gm2g1)   gm2-gangliosidosis type 2 (gm2g2)   gm2-gangliosidosis, adult   gm2-gangliosidosis, adult-onset   gm2-gangliosidosis, chronic   gm2-gangliosidosis, juvenile   gm2-gangliosidosis, late onset   gm2-gangliosidosis, subacute   hexa, czechoslovakian allele   hexa, dn allele   sandhoff disease, adult type   sandhoff disease, chronic   sandhoff disease, juvenile type   tay-sachs disease   tay-sachs disease, b1 variant   tay-sachs disease, juvenile cdd (ncbi), pdb tips:  if you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position. generic online order cialis  the histograms below the weblogo indicate mutations found on the domain. Red is for disease (omim) and blue is for snps. buy cheap generic cialis online  functional features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below. Range on the protein:      protein id            protein position p07686 np_000512 np_000511 domain position:  . buy cialis without prescription   the friendly community for knowledgeanything, any things, any thinks, annysings *lalala* :)     hexa information on hexa 2gjx , 2gk1 new question / new topic new question / new topic please enter a meaningful description of your question. cialis sales Mandatory field anti-spam* what is the sum of 4 and 6? What is the sum of 4 and 6? Evaluate thank you knowledge questions topics locally translation 2gjx , 2gk1 identifiers symbols hexa; tsd external ids omim:&details/hexa. Html#160;606869 mgi:&details/hexa. Html#160;96073 homologene:&details/hexa. Html#160;20146 chembl: 1250415 genecards: hexa gene ec number 3. buying cialis 2. 1. 52 gene ontology molecular function • beta-n-acetylhexosaminidase activity • cation binding • protein heterodimerization activity cellular component • membrane • lysosomal lumen biological process • skeletal system development • sphingolipid metabolic process • glycosphingolipid metabolic process • ganglioside catabolic process • lysosome organization • sensory perception of sound • adult walking behavior • cell death • lipid storage • sexual reproduction • glycosaminoglycan metabolic process • myelination • small molecule metabolic process • cell morphogenesis involved in neuron differentiation • neuromuscular process controlling posture • neuromuscular process controlling balance sources: amigo / quickgo orthologs species human mouse entrez 3073 15211 ensembl ensg00000213614 ensmusg00000025232 uniprot p06865 p29416 refseq (mrna) nm_000520. 4 nm_010421. 4 refseq (protein) np_000511. overnight shipping cialis 2 np_034551. 2 location (ucsc) chr 15: 72. 64 – 72. buy cheap generic cialis online 67 mb chr 9: 59. 54 – 59. 57 mb pubmed search [1] [2] this box: view talk edit hexosaminidase a (alpha polypeptide), also known as hexa, is an enzyme that in humans is encoded by the hexa gene. [1] [2] hexosaminidase a and the cofactor gm2 activator protein catalyze the degradation of the gm2 gangliosides and other molecules containing terminal n-acetyl hexosamines. [3] hexosaminidase a is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide is encoded by the hexa gene while the beta subunit is encoded by the hexb gene. Gene mutations in the gene encoding the beta subunit (hexb) often result in sandhoff disease; whereas, mutations in the gene encoding the alpha subunit (hexa, this gene) decrease the hydrolysis of gm2 gangliosides, which is the main cause of tay–sachs disease. [4] contents 1 function 2 gene mutations resulting in tay–sachs disease 3 references 4 further reading 5 external links [edit] function 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. cheap cialis no prescription The al. buy cheap generic cialis online

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