GBA2 is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans. It has glucosylceramidase (EC 3.2.1.45) activity. This gene encodes...

SPG45 613162 NT5C2 10q24.32–q24.33 Autosomal recessive Infancy SPG46 614409 GBA2 9p13.3 Autosomal recessive Variable SPG47 614066 AP4B1 1p13.2 Autosomal recessive...

Martinuzzi A, Bresolin N, Bassi MT (2014). "Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis"...

enables the authentication of a user Glucocerebrosidase, a human enzyme GBA2, a gene which encodes for cytosolic beta-glucosidase GBA3, a gene which encodes...

Velaglucerase (Vpriv) Taliglucerase alfa (Elelyso) Closely related enzymes GBA2: acid β-glucosidase (bile acid), also EC 3.2.1.45 GBA3: acid β-glucosidase...

HGNC:1273 P0DPI2 6100 GATM HGNC:4175 P50440 6101 GBA1 HGNC:4177 P04062 6102 GBA2 HGNC:18986 Q9HCG7 6103 GBA3 HGNC:19069 Q9H227 6104 GBE1 HGNC:4180 Q04446...

degradation of glycan structures. GBA belongs to Glycoside hydrolase family 30, GBA2 belongs to Glycoside hydrolase family 116. Brady RO, Kanfer J, Shapiro D...

metabolism. Closely related enzymes GBA: acid β-glucosidase, EC 3.2.1.45 GBA2: acid β-glucosidase (bile acid), also EC 3.2.1.45 GRCh38: Ensembl release...

Martinuzzi A, Bresolin N, Bassi MT (2014). "Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis"...

MG, Filosto M, Dilena R, et al. (2014). "Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis"...

Schule, R; Smets, K; et al. (2013). "Loss of Function of Glucocerebrosidase GBA2 is responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia"...