GBA2, glucosylceramidase beta 2, 57704

N. diseases: 79; N. variants: 7
Disease: Spastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0443306
Disease: Spastic
Spastic 		0.020 GeneticVariation disease BEFREE Here, using biochemistry, immunohistochemistry, structural modeling, and mouse genetics, we demonstrate that all but one of the spastic gait locus #46 (SPG46)-connected mutations cause a loss of GBA2 activity. 30662006 2019
CUI: C0443306
Disease: Spastic
Spastic 		0.020 GeneticVariation disease BEFREE GBA2-deficient mice present with male infertility, but humans carrying mutations in the GBA2 gene are affected with a combination of cerebellar ataxia and spastic paraplegia, as well as with thin corpus callosum and cognitive impairment (SPastic Gait locus #46, SPG46). 26220345 2015