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HEXB, hexosaminidase subunit beta

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HEXB, hexosaminidase subunit beta

  • Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed 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 termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

  • Gene Synonyms (beta-hexosaminidase subunit beta, HCC-7, N-acetyl-beta-glucosaminidase subunit beta, beta-N-acetylhexosaminidase subunit beta, beta-hexosaminidase beta-subunit, cervical cancer proto-oncogene 7 protein, epididymis luminal protein 248, epididymis secretory protein Li 111, epididymis secretory sperm binding protein, hexosaminidase B (beta polypeptide), hexosaminidase subunit B, ENC-1AS, HEL-248, HEL-S-111,)
  • NCBI Gene ID: 3074
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>Q5URX0
    UNIPROT ID#>>P07686
    UNIPROT ID#>>A0A024RAJ6
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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