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Gene : GM2A Homo sapiens

Name  ? GM2 ganglioside activator Cytological Location  5q33.1
Brief Description  GM2 ganglioside activator
Description  This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
  • synonyms:
  • uc003ltr.5,
  • OTTHUMG00000130124,
  • SAP-3,
  • cerebroside sulfate activator protein,
  • HGNC:4367,
  • GM2 ganglioside activator protein,
  • sphingolipid activator protein 3,
  • NM_000405,
  • SAP-3,
  • GM2A,
  • GM2-AP
  • identifiers:
  • 2760,
  • ENSG00000196743,
  • GM2A

Genome feature

Region: gene ? Length: 17256  
Location: 5:151253185-151270440 Cyto location: 5q33.1


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

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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Other

3753 SN Ps

5 Cross References

20 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results