Property Summary

NCBI Gene PubMed Count 90
PubMed Score 266.99
PubTator Score 161.02

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.183 1.7e-03
Multiple myeloma 1.580 1.2e-04
esophageal adenocarcinoma 1.500 1.9e-02
glioblastoma 2.400 5.7e-05
medulloblastoma, large-cell -1.200 4.2e-05
Duchenne muscular dystrophy 1.045 2.4e-08
juvenile dermatomyositis 1.373 6.7e-13
lung cancer -1.200 2.4e-03
diabetes mellitus -1.300 1.7e-02
Breast cancer 3.000 2.2e-02
acute myeloid leukemia -1.400 4.6e-02
ovarian cancer -2.500 1.1e-09
dermatomyositis 1.400 2.0e-03

Protein-protein Interaction (9)

Gene RIF (35)

PMID Text
24518553 DNA from Iranian Tay-Sachs patients reveals a novel mutation in HEXB predicting a termination codon or nonsense mutation.
24461908 A total of 19 HEXB variants were found in the 1092 genomes of which 5 are suspected of having a deleterious effect on hexosaminidase activity.
23911049 Concentration and specific activity of N-acetyl-B-hexosaminidase in palatine tonsils in patients with tonsillar hypertrophy and chronic tonsillitis both in childhood and adulthood significantly increase in comparison to healthy individuals.
23906468 A highly significant correlation of HEX-7 and %CDT has been found. Because of exclusion of the P isoform, HEX-7 could be a useful supplementary marker for detecting chronic alcohol abuse.
23886397 A patient with Sandhoff disease also is found to have a compound macro-deletion in HEXB.
23370522 GM2 gangliosidosis is caused by the gene mutation. (review)
23046579 Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
22863301 Expression of beta-hexosaminidase in the neurons of Sandhoff disease patients rescues transgenic mice from neurodegeneration.
22848519 minigene studies revealed the presence of a novel alternative spliced HEXB mRNA variant also present in normal cells
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
22191674 We describe a novel HEXB mutation that is shared among 4 patients with Sandhoff disease.
21997228 The absence of beta-N-acetyl-hexosaminidase activity does not alter the differentiation of i-DCs from HSCs, but it is critical for the activation of CD4(+)T cells because knock-down of HEXA or HEXB gene causes a loss of function of i-DCs.
21978926 The non-random distribution of plasma membrane-associated beta-hexosaminidase and beta-galactosidase and their localization within lipid microdomains, suggest a role of these enzymes in the local reorganization of glycosphingolipid-based signalling units.
21637923 Down-regulation of beta-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells
21321400 Plasma beta-hexosaminidase and beta-galactosidase) levels are higher in patients with Alzheimer's disease-type 2 diabetes mellitus (T2DM) compared to those with T2DM alone.
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.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19615986 Data suggest that cigarette smoking can inhibit, by the influence on N-acetyl-beta-hexosaminidase activity, catabolism of oligosaccharide chains in cancer tissues.
19278737 Gene therapy reduced GM(2) storage and ameliorated neuroinflammation in the brain of HexB(-/-) mice, as well as attenuated behavioral deficits.
18930675 A new D459A missense HEXB mutation was discovered in six juvenile patients with Sandhoff disease.
18758829 Results describe the molecular genetics of Sandhoff disease in Italy and provide new insights into the molecular basis of the disease through HEXB mutation.
18588514 These results reveal a new aspect of beta-hexosaminidase biology and suggest that a fully processed membrane-associated form of Hex is translocated from the lysosomal membrane to the PM by an as yet unknown mechanism. W
18552385 Lysosome-related genes, such as CLN2, CLN3, and HEXB, may be involved in the pathogenesis of adipose tissue hypertrophy in TED.
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
18204279 Elevated activity of beta-hexosaminidase observed in subjects with asthma suggests that the beta-hex isozyme could take part in airway inflammation and remodeling in asthma.
18180457 Beta-hexosaminidase is a peptidoglycan hydrolase that surprisingly exerts its mycobactericidal effect at the macrophage plasma membrane during mycobacteria-induced secretion of lysosomes
17251047 novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease
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.
16352452 Observational study of genetic testing. (HuGE Navigator)
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.
15485660 alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A
12706724 The X-ray crystal structure of beta-hexosaminidase B provides new insights into mutations that cause Sandhoff disease.
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

AA Sequence

MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLPLSVKMTPNLL      1 - 70
HLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQAKTQVQQLLVSITLQSECDAF     71 - 140
PNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVYQDSYGTFTINESTIIDSPRFSHRGILIDTS    141 - 210
RHYLPVKIILKTLDAMAFNKFNVLHWHIVDDQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARL    211 - 280
RGIRVLPEFDTPGHTLSWGKGQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIH    281 - 350
LGGDEVEFKCWESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI    351 - 420
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQLFIGGEACLWG    421 - 490
EYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERGIAAQPLYAGYCNHENM        491 - 556
//

Text Mined References (95)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
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.
24461908 2014 Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23911049 N-acetyl-?-hexosaminidase in chronic tonsillitis and tonsillar hypertrophy.
23906468 2013 Microheterogeneity of serum ?-hexosaminidase in chronic alcohol abusers in a driver's license regranting program.
23886397 2013 Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.
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].
23046579 2013 Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients.
22863301 2012 Conditional expression of human ?-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation.
22848519 2012 Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
22789865 2012 GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.
22191674 2012 A polymerase chain reaction-based genotyping assay for detecting a novel Sandhoff disease-causing mutation.
21997228 2012 Knock-down of HEXA and HEXB genes correlate with the absence of the immunostimulatory function of HSC-derived dendritic cells.
21978926 2012 Glycohydrolases ?-hexosaminidase and ?-galactosidase are associated with lipid microdomains of Jurkat T-lymphocytes.
21637923 2011 Down-regulation of ?-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells.
21321400 2011 Lysosomal ?-galactosidase and ?-hexosaminidase activities correlate with clinical stages of dementia associated with Alzheimer's disease and type 2 diabetes mellitus.
21307379 2011 Glomerular and tubular damage markers are elevated in patients with diabetes.
21269460 2011 Initial characterization of the human central proteome.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19615986 2009 Effect of smoking on activity of N-acetyl-beta-hexosaminidase in serum and urine of renal cancer patients.
19278737 2009 The trigeminal retrograde transfer pathway in the treatment of neurodegeneration.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18930675 2008 A novel HEXB mutation and its structural effects in juvenile Sandhoff disease.
18758829 2009 Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.
18588514 2008 Identification and characterization of mature beta-hexosaminidases associated with human placenta lysosomal membrane.
18552385 2008 Lysosome-related genes are regulated in the orbital fat of patients with graves' ophthalmopathy.
18217416 2007 Activity of lysosomal exoglycosidases in saliva of patients with HIV infection.
18204279 2008 N-acetyl-beta-hexosaminidase activity in asthma.
18180457 2008 Role for lysosomal enzyme beta-hexosaminidase in the control of mycobacteria infection.
17251047 2007 Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
16710745 2006 Activity of lysosomal exoglycosidases in human gliomas.
16352452 2006 Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.
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).
15485660 2004 An alpha-subunit loop structure is required for GM2 activator protein binding by beta-hexosaminidase A.
15459180 2004 Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12706724 2003 The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease.
12662933 2003 Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease.
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.
11447134 2001 Complete analysis of the glycosylation and disulfide bond pattern of human beta-hexosaminidase B by MALDI-MS.
10982028 2000 Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
10591618 I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.
10571007 1999 Biochemical consequences of mutations causing the GM2 gangliosidoses.
9888387 1999 Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.
9856491 1998 Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
9694901 1998 A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
9401004 1997 Molecular basis of heat labile hexosaminidase B among Jews and Arabs.
8950198 1996 Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
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.
8634145 1996 Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
8357844 1993 Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
8106452 1994 Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
8045559 1994 Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.
7633435 1995 A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
7626071 1995 A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
7557963 1995 A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
7299841 1981 Ligatin binds phosphohexose residues on acidic hydrolases.
7177110 1982 Selective linkage disruption in human-Chinese hamster cell hybrids: deletion mapping of the leuS, hexB, emtB, and chr genes on human chromosome 5.
6959123 1982 Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.
6230359 1984 Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.
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.
2977375 1988 Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
2971395 1988 Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.
2971039 1988 Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system.
2966076 1988 Localization of the pro-sequence within the total deduced primary structure of human beta-hexosaminidase B.
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.
2964638 1988 Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
2948136 1987 Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease.
2921040 1989 Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis.
2579389 1985 Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase.
2525487 1989 The amino-terminal sequences in the pro-alpha and -beta polypeptides of human lysosomal beta-hexosaminidase A and B are retained in the mature isozymes.
2522450 1989 Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12.
2170400 1990 Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase.
2147427 1990 Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase.
2147027 1990 Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
2139028 1990 Characterization of human placental beta-hexosaminidase I2. Proteolytic processing intermediates of hexosaminidase A.
1967020 1990 Synthesis of a human lysosomal enzyme, beta-hexosaminidase B, using the baculovirus expression system.
1825792 1991 The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
1720305 1991 Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.
1531140 1992 A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.
1487253 1992 Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.
1386607 1992 An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
1054503 1975 Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.