Property Summary

NCBI Gene PubMed Count 116
Grant Count 107
R01 Count 38
Funding $43,941,818.5
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 0.037
glioblastoma 1.700 0.006
tuberculosis and treatment for 6 months 1.200 0.000
diabetes mellitus -1.200 0.008
subependymal giant cell astrocytoma 2.324 0.003
ovarian cancer 1.500 0.000

Synonym

Accession P06865 B4DKE7 E7ENH7 Q53HS8 Q6AI32
Symbols TSD

Gene

PANTHER Protein Class (2)

PDB

2GJX   2GK1   1QBC  

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)
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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].
More...