RecName: Full=Non-lysosomal glucosylceramidase; Short=NLGase; AltName: - Protein

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Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46. [Eur J Med Genet. 2020]
Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.
Kloth K, Cozma C, Bester M, Gerloff C, Biskup S, Zittel S. Eur J Med Genet. 2020 Sep; 63(9):103992. Epub 2020 Jun 24.
Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation. [PLoS One. 2020]
Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.
Sultana S, Stewart J, van der Spoel AC. PLoS One. 2020; 15(6):e0233856. Epub 2020 Jun 3.
Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells. [Mediators Inflamm. 2017]
Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells.
Schiumarini D, Loberto N, Mancini G, Bassi R, Giussani P, Chiricozzi E, Samarani M, Munari S, Tamanini A, Cabrini G, et al. Mediators Inflamm. 2017; 2017:1730245. Epub 2017 Dec 3.

RefSeq genomic sequence
See the genomic reference sequence for the GBA2 gene (NG_033899.1).
RefSeq protein isoforms
See 26 reference sequence protein isoforms for the GBA2 gene.

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Q9HCG7 [Domain Mapping of Disease Mut...]
Q9HCG7
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
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reagents
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RecName: Full=Non-lysosomal glucosylceramidase; Short=NLGase; AltName: Full=Beta...
RecName: Full=Non-lysosomal glucosylceramidase; Short=NLGase; AltName: Full=Beta-glucocerebrosidase 2; Short=Beta-glucosidase 2; AltName: Full=Bile acid beta-glucosidase GBA2; AltName: Full=Bile acid glucosyl transferase GBA2; AltName: Full=Cholesterol glucosyltransferase GBA2; AltName: Full=Cholesteryl-beta-glucosidase GBA2; AltName: Full=Glucosylceramidase 2; AltName: Full=Non-lysosomal cholesterol glycosyltransferase; AltName: Full=Non-lysosomal galactosylceramidase; AltName: Full=Non-lysosomal glycosylceramidase
gi|143018392|sp|Q9HCG7.2|GBA2_HUMAN

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