LMPD Database

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LMP000283

UniProt Annotations

Entry Information
Gene Nameglucosidase, beta, acid
Protein EntryGLCM_HUMAN
UniProt IDP04062
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing, Alternative initiation; Named isoforms=5; Name=Long; IsoId=P04062-1; Sequence=Displayed; Note=Has a 39 residue signal sequence. The upstream initiation site produces two to three times as much protein as does the downstream initiation codon.; Name=Short; IsoId=P04062-2; Sequence=VSP_018800; Note=Has a 19 residue signal sequence.; Name=3; IsoId=P04062-3; Sequence=VSP_025216, VSP_025217, VSP_025218; Note=Produced by alternative splicing.; Name=4; IsoId=P04062-4; Sequence=VSP_054655; Note=No experimental confirmation available.; Name=5; IsoId=P04062-5; Sequence=VSP_054656; Note=No experimental confirmation available.;
Catalytic ActivityD-glucosyl-N-acylsphingosine + H(2)O = D- glucose + N-acylsphingosine.
DiseaseGaucher disease 1 (GD1) [MIM
DiseaseGaucher disease 2 (GD2) [MIM
DiseaseGaucher disease 3C (GD3C) [MIM
DiseaseGaucher disease 3 (GD3) [MIM
DiseaseGaucher disease (GD) [MIM
DiseaseGaucher disease perinatal lethal (GDPL) [MIM
DiseaseNote=Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
DiseaseParkinson disease (PARK) [MIM
Enzyme RegulationRequires saposin-C and anionic phospholipids for activity.
InteractionO35114:Scarb2 (xeno); NbExp=1; IntAct=EBI-1564609, EBI-1564519;
PharmaceuticalAvailable under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease.
SimilarityBelongs to the glycosyl hydrolase 30 family.
Subcellular LocationLysosome membrane {ECO
SubunitInteracts with saposin-C. Interacts with SCARB2. {ECO
Web ResourceName=Ceredase; Note=Clinical information on Ceredase; URL="http://www.rxlist.com/ceredase-drug.htm";
Web ResourceName=Cerezyme; Note=Clinical information on Cerezyme; URL="http://www.rxlist.com/cerezyme-drug.htm";