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FIGURE: 1 / 1
Positive test controls include: MCF7, SKOV3, NCI-H460. The target is usually found in the following locations: Lumenal side, Lysosome membrane, Peripheral membrane protein.^M
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Immunogen sequence: ARPCIPKSFG YSSVVCVCNA TYCDSFDPPT FPALGTFSRY ESTRSGRRME LSMGPIQANH TGTGLLLTLQ PEQKFQKVKG FGGAMTDAAA LNILALSPPA QNLLLKSYFS EEGIGYNIIR VPMASCDFSI RTYTYADTPD DFQLHNFSLP EEDTKLKIPL IHRALQLAQR PVSLLASPWT SPTWLKTNGA VNGKGSLKGQ PGDIYHQTWA R
GBA encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Acid beta-glucosidase; Alglucerase; Beta-GC; Beta-glucocerebrosidase; Beta-glucosylceramidase 1; Cholesterol glucosyltransferase; Cholesteryl-beta-glucosidase; D-glucosyl-N-acylsphingosine glucohydrolase; glucocerebrosidase; glucosidase, beta, acid; glucosylceramidase; Glucosylceramidase beta 1; glucosylceramidase-like protein; Imiglucerase; Lysosomal acid GCase; Lysosomal acid glucosylceramidase; Lysosomal cholesterol glycosyltransferase; Lysosomal galactosylceramidase; lysosomal glucocerebrosidase; Lysosomal glycosylceramidase; SGTase
Gene Aliases: GBA; GBA1; GC; GCB; GLUC
UniProt ID: (Human) P04062
Entrez Gene ID: (Human) 2629, (Rat) 684536
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