RecName: Full=Lysosomal acid glucosylceramidase; Short=Lysosomal acid - Protein

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The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation. [J Parkinsons Dis. 2024]
The Degree of Cardiovascular Autonomic Dysfunction is not Different in GBA-Related and Idiopathic Parkinson's Disease Patients: A Case-Control Instrumental Evaluation.
Giannini G, Minardi R, Barletta G, Cani I, Cecere A, Baldelli L, Fiorentino A, Guaraldi P, Sambati L, Capellari S, et al. J Parkinsons Dis. 2024; 14(2):335-346.
IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson's Disease Caused by the GBA1 N370S Mutation. [Int J Mol Sci. 2023]
IPSC-Derived Astrocytes Contribute to In Vitro Modeling of Parkinson's Disease Caused by the GBA1 N370S Mutation.
Yarkova ES, Grigor'eva EV, Medvedev SP, Pavlova SV, Zakian SM, Malakhova AA. Int J Mol Sci. 2023 Dec 26; 25(1). Epub 2023 Dec 26.
Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort. [Mov Disord. 2024]
Clinicogenetic Characterization of Patients with PD and Heterozygous GBA1 Variants in an Indian Cohort.
Kamath SD, Holla VV, Phulpagar P, Kamble N, Yadav R, Muthusamy B, Pal PK. Mov Disord. 2024 Mar; 39(3):628-630. Epub 2023 Dec 20.

RefSeq genomic sequence
See the genomic reference sequence for the GBA1 gene (NG_009783.1).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the GBA1 gene.

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P04062 [Domain Mapping of Disease Mut...]
P04062
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=Lysosomal acid glucosylceramidase; Short=Lysosomal acid GCase; Alt...
RecName: Full=Lysosomal acid glucosylceramidase; Short=Lysosomal acid GCase; AltName: Full=Acid beta-glucosidase; AltName: Full=Alglucerase; AltName: Full=Beta-glucocerebrosidase; Short=Beta-GC; AltName: Full=Beta-glucosylceramidase 1; AltName: Full=Cholesterol glucosyltransferase; Short=SGTase; AltName: Full=Cholesteryl-beta-glucosidase; AltName: Full=D-glucosyl-N-acylsphingosine glucohydrolase; AltName: Full=Glucosylceramidase beta 1; AltName: Full=Imiglucerase; AltName: Full=Lysosomal cholesterol glycosyltransferase; AltName: Full=Lysosomal galactosylceramidase; AltName: Full=Lysosomal glycosylceramidase; Flags: Precursor
gi|55584151|sp|P04062.3|GBA1_HUMAN

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