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Gene : HEXA Homo sapiens

Name  ? hexosaminidase subunit alpha Cytological Location  15q23
Brief Description  hexosaminidase subunit alpha
Description  This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
  • synonyms:
  • TSD,
  • uc002aun.5,
  • M13520,
  • GM2 gangliosidosis,
  • HGNC:4878,
  • NM_000520,
  • hexosaminidase A (alpha polypeptide),
  • HEXA,
  • OTTHUMG00000133445,
  • beta-hexosaminidase subunit alpha,
  • Tay Sachs disease
  • identifiers:
  • 3073,
  • ENSG00000213614,
  • HEXA

Genome feature

Region: gene ? Length: 35091  
Location: 15:72340924-72376014 reverse strand Cyto location: 15q23


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results