ⓘ HEXB

                                     

ⓘ HEXB

Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene.

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that together with the cofactor GM2 activator protein, catalyzes the degradation of ganglioside GM2 and other molecules containing terminal N-acetyl hexosamines. Beta hexosaminidase consists of two subunits, alpha and beta, which are encoded by separate genes. Both beta hexosaminidase alpha-and beta-subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders called GM2 gangliosidoses. Beta subunit gene mutations lead to disease Sandhoff GM2-gangliosidosis type II.

                                     
  • 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
  • active dimers: The α and β subunits are encoded by separate genes, HEXA and HEXB respectively. Beta - hexosaminidase and the cofactor GM2 activator protein
  • undetected because of misdiagnoses. Biallelic pathogenic variants in the HEXB gene cause Sandhoff disease. The gene provides instructions for making a
  • and spinal cord. The disease results from mutations on chromosome 5 in the HEXB gene, critical for the lysosomal enzymes beta - N - acetylhexosaminidase A and
  • ganglioside activator GNPDA1: Glucosamine - 6 - phosphate isomerase 1 GPBP1: Vasculin HEXB hexosaminidase B beta polypeptide HMGXB3: encoding protein HMG - box containing
  • unique microglial biomarker that includes over 40 genes including P2ry12 and HEXB DAP12 appears to play an important role in sensome protein interaction
  • disruption in human - Chinese hamster cell hybrids: deletion mapping of the leuS, hexB emtB, and chr genes on human chromosome 5 Mol. Cell. Biol. 2 10 1220 8
  • on earth. Beta - hexosaminidases are composed of either a HexA HexB heterodimer or a HexB homodimer, and can hydrolyse diverse substrates, including GM 2 - gangliosides
  • evidence for mismatch repair was obtained from S. pneumoniae the hexA and hexB genes Subsequent work on E. coli has identified a number of genes that
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