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Sequence of this protein is as follows: MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGA RPCIPKSFGY SSVVCVCNAT YCDSFDPPTF PALGTFSRYE STRSGRRMEL SMGPIQANHT GTGLLLTLQP EQKFQKVKGF GGAMTDAAAL NILALSPPAQ NLLLKSYFSE EGIGYNIIRV PMASCDFSIR TYTYADTPDD FQLHNFSLPE EDTKLKIPLI HRALQLAQRP VSLLASPWTS PTWLKTNGAV NGKGSLKGQP GDIYHQTWAR YFVKFLDAYA EHKLQFWAVT AENEPSAGLL SGYPFQCLGF TPEHQRDFIA RDLGPTLANS THHNVRLLML DDQRLLLPHW AKVVLTDPEA AKYVHGIAVH WYLDFLAPAK ATLGETHRLF PNTMLFASEA CVGSKFWEQS VRLGSWDRGM QYSHSIITNL LYHVVGWTDW NLALNPEGGP NWVRNFVDSP IIVDITKDTF YKQPMFYHLG HFSKFIPEGS QRVGLVASQK NDLDAVALMH PDGSAVVVVL NRSSKDVPLT IKDPAVGFLE TISPGYSIHT YLWRRQ
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Acid beta-glucosidase; Alglucerase; Beta-GC; Beta-glucocerebrosidase; Beta-glucosylceramidase 1; Cholesterol glucosyltransferase; Cholesteryl-beta-glucosidase; D-glucosyl-N-acylsphingosine glucohydrolase; glucosidase, beta, acid; Glucosylceramidase beta 1; glucosylceramidase-like protein; Imiglucerase; Lysosomal acid GCase; Lysosomal acid glucosylceramidase; Lysosomal cholesterol glycosyltransferase; Lysosomal galactosylceramidase; lysosomal glucocerebrosidase; Lysosomal glycosylceramidase; SGTase
基因别名: GBA; GBA1; GC; GCB; GLUC
UniProt ID: (Human) P04062
Entrez Gene ID: (Human) 2629