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Protein: SAP3_HUMAN

Ganglioside GM2 activator

FUNCTION: Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. more...

SUBCELLULAR LOCATION: Lysosome.

PTM: The serines in positions 32 and 33 are absent in 80% of the sequenced protein.

DISEASE: Defects in GM2A are the cause of GM2-gangliosidosis type AB (GM2GAB) [MIM:272750]; also known as Tay-Sachs disease AB variant. GM2-gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2GAB is characterized by GM2 gangliosides accumulation in the presence of both hexosaminidase A and B.

SEQUENCE CAUTION: Sequence=CAA43408.1; Type=Erroneous initiation; WEB RESOURCE: Name=GM2Adb; Note=GM2A mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=GM2Adb"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GM2A";

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Homo sapiens

Gene Symbol:

  • GM2A

Synonyms:

  • SAP-3
  • Cerebroside sulfate activator protein
  • GM2-AP
  • Shingolipid activator protein 3
  • Ganglioside GM2 activator isoform short

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