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GBA2

GBA2

Protein-coding gene in the species Homo sapiens

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

GBA2

Hereditary spastic paraplegia

Group of genetic disorders affecting motor neurons controlling the lower limbs

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

Hereditary spastic paraplegia

Hereditary_spastic_paraplegia

Glucocerebrosidase

Mammalian protein found in humans

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

Glucocerebrosidase

Eicosanoid

Class of compounds

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

Eicosanoid

GBA (disambiguation)

Topics referred to by the same term

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

GBA (disambiguation)

GBA_(disambiguation)

FAM166B

Protein-coding gene in the species Homo sapiens

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

FAM166B

List of investigational Parkinson's disease drugs

Investigational Parkinson's disease drugs

Parkinson's disease therapeutics - Alectos Therapeutics – glucocerebrosidase 2 (GBA2) protein inhibitor [212] Research programme: Parkinson's disease therapies

List of investigational Parkinson's disease drugs

List_of_investigational_Parkinson's_disease_drugs

CYP2U1

Protein-coding gene in the species Homo sapiens

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

CYP2U1

List of human protein-coding genes 3

HGNC:1273; P0DPI2 6103 GATM HGNC:4175; P50440 6104 GBA1 HGNC:4177; P04062 6105 GBA2 HGNC:18986; Q9HCG7 6106 GBA3 HGNC:19069; Q9H227 6107 GBE1 HGNC:4180; Q04446

List of human protein-coding genes 3

List_of_human_protein-coding_genes_3

20-Hydroxyeicosatetraenoic acid

Chemical compound

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"

20-Hydroxyeicosatetraenoic acid

20-Hydroxyeicosatetraenoic_acid

GBA3

Protein-coding gene in the species Homo sapiens

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

GBA3

Glucosylceramidase

Class of enzymes

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

Glucosylceramidase