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Symbol GBA2 contributors: npt/shn - updated : 25-10-2017
HGNC name glucosidase, beta (bile acid) 2
HGNC id 18986
  • male mice Knockout for Gba2 exhibited impaired fertility which is due to globozoospermia, abnormal sperm acrosomes, and defective sperm mobility
  • GBA2-targeted RNA interference reduces endogenous non-lysosomal glucosylceramidase activity in cells
  • in mice pharmacological inhibition of GBA2 activity is associated with impaired spermatogenesis
  • knock down of mouse Gba2 by antisense morpholino oligonucleotide induced a curly tail phenotype in 12.5% of morphants and a substantial proportion of morphants showed significant motility defects characterized by slower movements and shorter touch-induced escape distances
  • in zebrafish model, human GBA2 mRNA can partially compensate for the loss of endogenous zebrafish mRNA which decreases motility defects