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Gene Ontology Classifications
hexosaminidase A

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GO curators for mouse genes have assigned the following annotations to the gene product of Hexa. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of July 20, 2005. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 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. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Adamali HI et al. (1999) II. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiency. J Androl, 20:803-24. (PubMed:10591619)
  2. Cohen-Tannoudji M et al. (1995) Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Mamm Genome, 6:844-9. (PubMed:8747922)
  3. Guidotti JE et al. (1999) Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice. Hum Mol Genet, 8:831-8. (PubMed:10196372)
  4. Huang JQ et al. (1997) Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. Hum Mol Genet, 6:1879-85. (PubMed:9302266)
  5. Lankar D et al. (2002) Dynamics of major histocompatibility complex class II compartments during B cell receptor-mediated cell activation. J Exp Med, 195:461-72. (PubMed:11854359)
  6. Liu Y et al. (1999) A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder [see comments] J Clin Invest, 103:497-505. (PubMed:10021458)
  7. Liu Y et al. (1997) Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. Proc Natl Acad Sci U S A, 94:8138-43. (PubMed:9223328)
  8. Miklyaeva EI et al. (2004) Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Brain Res, 1001:37-50. (PubMed:14972652)
  9. Phaneuf D et al. (1996) Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet, 5:1-14. (PubMed:8789434)
  10. Platt FM et al. (1997) Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science, 276:428-31. (PubMed:9103204)
  11. Redshaw N et al. (2013) TGF-beta/Smad2/3 signaling directly regulates several miRNAs in mouse ES cells and early embryos. PLoS One, 8:e55186. (PubMed:23390484)
  12. Sango K et al. (1996) Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nat Genet, 14:348-52. (PubMed:8896570)
  13. Suzuki K et al. (1997) Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology. J Neuropathol Exp Neurol, 56:693-703. (PubMed:9184660)
  14. Trasler J et al. (1998) Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides. Endocrinology, 139:3280-8. (PubMed:9645704)
  15. Yamanaka S et al. (1994) Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci U S A, 91:9975-9. (PubMed:7937929)
  16. Yasue M et al. (1991) Chromosomal assignments of 23 biochemical loci of the rat by using rat x mouse somatic cell hybrids. Cytogenet Cell Genet, 57:142-8. (PubMed:1914521)
  17. Yuziuk JA et al. (1998) Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2. J Biol Chem, 273:66-72. (PubMed:9417048)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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