lysosomal acid glucosylceramidase isoform 2 [Homo sapiens]

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The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1. [Sci Adv. 2024]
The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.
Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH, Evans JR, Chen Z, et al. Sci Adv. 2024 Jun 28; 10(26):eadk1296. Epub 2024 Jun 26.
Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis. [J Neurochem. 2024]
Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.
Onal G, Yalçın-Çakmaklı G, Özçelik CE, Boussaad I, Şeker UÖŞ, Fernandes HJR, Demir H, Krüger R, Elibol B, Dökmeci S, et al. J Neurochem. 2024 Sep; 168(9):2543-2560. Epub 2024 Apr 20.
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease. [Orphanet J Rare Dis. 2024]
GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.
Wang CH, Huang YN, Liao WL, Hsieh AR, Lin WD, Liu KW, Lu WL, Huang CC, Chien YH, Lee NC, et al. Orphanet J Rare Dis. 2024 Apr 4; 19(1):144. Epub 2024 Apr 4.

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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NP_001165282 [Domain Mapping of Disease Mut...]
NP_001165282
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
Ensembl [Ensembl]
Ensembl
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Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

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Protein