Recombinant Human Beta-hexosaminidase subunit alpha (HEXA)

1. Reported data present, for the first time, reference values for urinary activities of HEX and its isoenzymes HEX A and HEX B in children and adolescent. PMID: 28846871
2. The alpha mutants E482K and G269S are defective in enzymatic activity, unprocessed by lysosomal proteases, and exhibit altered folding pathways compared with wild-type alpha. E482K is more severely misfolded than G269S, as observed by its aggregation and inability to associate with the HexA beta chain. Importantly, both mutants are retrotranslocated from the endoplasmic reticulum to the cytosol and are degraded by the ... PMID: 27682588
3. reports a new missense mutation in the HEXA gene in two German siblings with late-onset Tay-Sachs disease and prominent psychiatric symptoms PMID: 25860343
4. The silencing of the HEXA gene had a stronger immune inhibitory effect, thereby indicating a major involvement of beta-N-acetyl-hexosaminidase A isoenzyme within this mechanism. PMID: 21997228
5. Human prostate cancer cells are characterised by a significant decrease in HexA activity. PMID: 24389457
6. DNA reveals novel mutations in Iranian subjects causing Tay-Sachs disease in the alpha and beta subunits of HexA. PMID: 24518553
7. GM2 gangliosidosis is caused by the gene mutation. (review) PMID: 23370522
8. Identification of six novel missense mutations in children affected with Tay Sachs disease from India. PMID: 22723944
9. identified 27 different mutations, 14 of which were novel, in the HEXA gene and 14 different mutations, 8 of which unreported until now, in the HEXB gene, and attempted to correlate these mutations with the clinical presentation of the patients PMID: 22789865
10. MtsD, MtsF and MtsH are fusion proteins with a methyltransferase domain and a corrinoid-binding domain. PMID: 19732345
11. HEXA gene in Argentinean patients affected with Tay-Sachs disease, overall 14 different mutations were identified, 8 of them were novel and lead to premature stop codons, drastic residues changes or a splicing defect. PMID: 22441121
12. Beta-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells. PMID: 22147196
13. We report the first Jordanian Arab Tay-Sachs disease patient diagnosed by deficient beta-hexosaminidase A activity, mutation analysis revealed homozygosity for a nonsense HEXA mutation, c.78G>A (p.W26X) PMID: 21967858
14. Two mutations were identified c.1A>G (p.MIV), which obliterated the initiating methionine in codon 1, and c.1177C>T (p.R393X), which predicted a termination codon or nonsense mutation in infantile Tay-Sachs diseae in the Persian population. PMID: 21796138
15. Down-regulation of beta-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells PMID: 21637923
16. Detected mutations in the HEXA gene through gene sequencing and, by combining the HEXA enzyme assay and the HEXA gene sequencing assay, were able to clarify Tay Sachs carrier status. PMID: 19858779
17. Eight novel mutations PMID: 12180151
18. plasma activity of total Hex does not appear to be a reliable marker of erosion and cartilage degradation in rheumatoid arthritis patients; liver function appears to be the major determinant for the plasma Hex activity in these patients PMID: 12413610
19. second novel HEXA mutation specific to the IJ TDS carriers: a substitution of cytosine 1351 by guanosine (C1351G), resulting in the change of leucine to valine in position 451. PMID: 14648242
20. the founder effect in a rapidly expanding population arising from a bottleneck provides a robust parsimonious hypothesis explaining the spread of 1278insTATC-linked TSD in Ashkenazi Jews PMID: 14727180
21. Therefore, our bicistronic lentivector supplying both alpha- and beta-subunits of beta-hexosaminidases may provide a potential therapeutic tool for the treatment of Sandhoff disease. PMID: 15953731
22. analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease PMID: 16088929
23. The plasma membrane associated beta-hexosaminidase A is fully processed, suggesting its lysosomal origin. PMID: 16212960
24. the X-ray crystallographic structure of Hex A to 2.8 A resolution. The crystal structure of Hex A reveals an alphabeta heterodimer, with each subunit having a functional active site PMID: 16698036
25. The highest activities of exoglycosidases were observed in high-grade gliomas, and a positive correlation of enzyme activities and degree of malignancy was noted. PMID: 16710745
26. isoenzyme composition of N-acetyl-beta-D-hexosaminidase in seminal plasma from patients with secretory azoospermia is significantly different from controls, but this difference does not represent a useful marker of secretory azoospermia PMID: 16776631
27. Describe strategy for detecting HexA mutations/activity in prenatal diagnosis of Tay-Sachs disease. PMID: 18425478
28. In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was larger than that in the late-onset disease group. PMID: 18490185
29. A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed. PMID: 19298806

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HGNC: 4878

OMIM: 272800

KEGG: hsa:3073

STRING: 9606.ENSP00000268097

UniGene: Hs.604479