GM2A, GM2 ganglioside activator

GM2A, GM2 ganglioside activator

• 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]

• Gene Synonyms (ganglioside GM2 activator, cerebroside sulfate activator protein, shingolipid activator protein 3, sphingolipid activator protein 3, GM2-AP, SAP-3,)
• NCBI Gene ID: 2760
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P17900
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

GM2 ganglioside activator interacts with:

• chromosome 16 open reading frame 70
  cilia and flagella associated protein 298
  coiled-coil domain containing 51
  DEAD-box helicase 19B
  germ cell-less 1, spermatogenesis associated
  GID complex subunit 8 homolog
  glutathione S-transferase pi 1
  glycosylphosphatidylinositol specific phospholipase D1
  heat shock transcription factor 2
  heterogeneous nuclear ribonucleoprotein A1
  hexosaminidase subunit alpha
  killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
  L-2-hydroxyglutarate dehydrogenase
  leucine aminopeptidase 3
  phosphodiesterase 4D interacting protein
  phospholipase D2
  POC5 centriolar protein
  sepiapterin reductase
  SIN3-HDAC complex associated factor
  single stranded DNA binding protein 4
  splicing factor 3a subunit 1
  TBC1 domain family member 22B
  vanin 2
  Zic family member 1

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.