Property Summary

NCBI Gene PubMed Count 116
PubMed Score 1039.19
PubTator Score 633.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
astrocytoma 1.200 3.7e-02
glioblastoma 1.700 5.6e-03
tuberculosis and treatment for 6 months 1.200 1.7e-05
diabetes mellitus -1.200 7.6e-03
subependymal giant cell astrocytoma 2.324 3.2e-03
ovarian cancer 1.500 1.5e-05

Protein-protein Interaction (9)

Gene RIF (34)

PMID Text
25860343 reports a new missense mutation in the HEXA gene in two German siblings with late-onset Tay-Sachs disease and prominent psychiatric symptoms
24518553 DNA reveals novel mutations in Iranian subjects causing Tay-Sachs disease in the alpha and beta subunits of HexA.
24389457 Human prostate cancer cells are characterised by a significant decrease in HexA activity.
23370522 GM2 gangliosidosis is caused by the gene mutation. (review)
22789865 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
22723944 Identification of six novel missense mutations in children affected with Tay Sachs disease from India.
22441121 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.
22147196 Beta-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells.
21997228 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.
21967858 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)
21796138 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.
21637923 Down-regulation of beta-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells
21307379 Urinary NAG (ninefold), NGAL (1.5-fold), and H-FABP (3.5-fold) were significantly elevated in normoalbuminuric diabetic patients compared with nondiabetic control subjects.
19876898 Observational study of genetic testing. (HuGE Navigator)
19858779 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.
19858779 Observational study of genetic testing. (HuGE Navigator)
19732345 MtsD, MtsF and MtsH are fusion proteins with a methyltransferase domain and a corrinoid-binding domain.
19298806 A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed.
18490185 In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was larger than that in the late-onset disease group.
18425478 Describe strategy for detecting HexA mutations/activity in prenatal diagnosis of Tay-Sachs disease.
18217416 following HIV infection, there is an increased rate of catabolism of glycoconjugates in saliva resulting from changes in the proportions of the activity of isoenzymes A and B of N-acetyl-beta-hexosaminidase, beta-galactosidase and alpha-fucosidase
16776631 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
16710745 The highest activities of exoglycosidases were observed in high-grade gliomas, and a positive correlation of enzyme activities and degree of malignancy was noted.
16698036 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
16212960 The plasma membrane associated beta-hexosaminidase A is fully processed, suggesting its lysosomal origin.
16088929 analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease
15953731 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.
15345116 Observational study of genotype prevalence. (HuGE Navigator)
14727180 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
14648242 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.
12413610 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
12180151 Eight novel mutations
11180612 Observational study of genotype prevalence. (HuGE Navigator)
11170098 Observational study of genetic testing. (HuGE Navigator)

AA Sequence

MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRD      1 - 70
LLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLE     71 - 140
TFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPS    141 - 210
FPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSG    211 - 280
SEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQ    281 - 350
LESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPW    351 - 420
YLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLT    421 - 490
SDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT                                   491 - 529
//

Text Mined References (122)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25860343 2015 Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
25645918 2015 Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.
24518553 2014 Three novel mutations in Iranian patients with Tay-Sachs disease.
24389457 2014 Hypermethylation contributes to down-regulation of lysosomal ?-hexosaminidase ? subunit in prostate cancer cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23370522 2013 [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].
22789865 2012 GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
22441121 2012 Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.
22147196 2012 ?-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells.
21997228 2012 Knock-down of HEXA and HEXB genes correlate with the absence of the immunostimulatory function of HSC-derived dendritic cells.
21967858 2011 Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
21796138 2011 Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
21637923 2011 Down-regulation of ?-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells.
21307379 2011 Glomerular and tubular damage markers are elevated in patients with diabetes.
21269460 2011 Initial characterization of the human central proteome.
19946888 2010 Defining the membrane proteome of NK cells.
19876898 2009 Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.
19858779 2010 Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
19732345 2009 Regulation of putative methyl-sulphide methyltransferases in Methanosarcina acetivorans C2A.
19298806 2009 Hexosaminidase as a new potential marker for larynx cancer.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18490185 2008 Structural consequences of amino acid substitutions causing Tay-Sachs disease.
18425478 2008 Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.
18217416 2007 Activity of lysosomal exoglycosidases in saliva of patients with HIV infection.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
16776631 2006 Fluorimetric determination of activity and isoenzyme composition of N-acetyl-beta-D-hexosaminidase in seminal plasma of fertile men and infertile patients with secretory azoospermia.
16710745 2006 Activity of lysosomal exoglycosidases in human gliomas.
16698036 2006 Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16212960 2005 Identification of plasma membrane associated mature beta-hexosaminidase A, active towards GM2 ganglioside, in human fibroblasts.
16088929 2005 Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.
15953731 2005 Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15345116 2004 Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14727180 2004 Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14648242 2004 Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.
14566483 2003 Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12413610 2002 Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis.
12180151 Eight novel mutations in the HEXA gene.
11180612 2001 A HEXA polymorphism (V436I) common to African-Americans and Ethiopian Jews.
11170098 2001 Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.
10571007 1999 Biochemical consequences of mutations causing the GM2 gangliosidoses.
9603435 1998 W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
9401008 1997 Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.
9375850 1997 Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.
9338583 1997 Tay-Sachs disease and HEXA mutations among Moroccan Jews.
9272736 A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.
9222766 1997 Homozygosity for the common Ashkenazi jewish Tay-Sachs +1 IVS-12 splice-junction mutation: first report.
9217013 1997 Formation of a ternary complex between GM2 activator protein, GM2 ganglioside and hexosaminidase A.
9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
9090523 1997 Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8757036 1996 Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.
8673609 1996 Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.
8663217 1996 Identification of domains in human beta-hexosaminidase that determine substrate specificity.
8652542 1996 Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.
8634145 1996 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
8581357 1995 GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.
8490625 1993 Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
8445615 1993 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
8328470 1993 Distribution of a pseudodeficiency allele among Tay-Sachs carriers.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7951261 1994 Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
7902672 1993 A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
7898712 1995 A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.
7887427 1995 The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.
7837766 1994 Molecular genetics of Tay-Sachs disease in Japan.
7717398 1995 Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
6230359 1984 Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.
3754980 1986 Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease.
3375249 1988 Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
3362213 1988 Identification of an altered splice site in Ashkenazi Tay-Sachs disease.
3013851 1986 Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
2973464 1988 Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.
2973311 1988 GM2-gangliosidosis B1 variant: a wide geographic and ethnic distribution of the specific beta-hexosaminidase alpha chain mutation originally identified in a Puerto Rican patient.
2971395 1988 Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.
2970528 1988 A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.
2965147 1988 Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.
2964446 1988 Proteolytic processing of the alpha-chain of the lysosomal enzyme, beta-hexosaminidase, in normal human fibroblasts.
2952641 1987 Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
2933746 1985 Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.
2848800 1988 The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.
2837213 1988 A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.
2531748 1989 A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase.
2522679 1989 The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.
2522660 1989 Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.
2278539 1990 Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.
2220821 1990 More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.
2144098 1990 A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
2141777 1990 A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.
2140574 1990 Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
2137287 1990 GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.
1996872 1991 Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child.
1837283 1991 Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
1833974 1991 Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
1832817 1991 GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.
1830584 1991 Expression of the beta-hexosaminidase alpha subunit gene with the four-base insertion of infantile Jewish Tay-Sachs disease.
1829032 1991 Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24.
1827945 1991 A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
1825792 1991 The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
1825014 1991 Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
1533633 1992 Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis.
1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
1483696 1992 The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
1384323 1992 A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
1318511 1992 Heterozygosity for the "DN allele" (G533-greater than A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of GM2-gangliosidosis.
1307230 1992 The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
1302612 1992 A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
1301938 1992 A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
1301190 1992 Novel Tay-Sachs disease mutations from China.
1301189 1992 A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.
1054503 1975 Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.
808963 1975 Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease).