関: glucosylceramidase

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/08/21 07:42:52」(JST)

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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism. It is localized in the lysosome and has a molecular weight of 59700 Daltons.

Mutations in the glucocerebrosidase gene cause Gaucher's 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 encoding the same protein.^[1]

In November 2008 mutations in the glucocerebrosidase gene were the mutations with the strongest association with Parkinson's disease in the PDGene database.^[2] The initial study that examined this link was published in 2004.^[3]

References[edit source | edit]

^ "Entrez Gene: GBA glucosidase, beta; acid (includes glucosylceramidase)".
^ "PDGene". Alzheimer Research Forum. 2008-11-12. Retrieved 2008-11-13.
^ Alicia Lwin, Eduard Orvisky, Ozlem Goker-Alpan, Mary E. LaMarca & Ellen Sidransky (January 2004). "Glucocerebrosidase mutations in subjects with parkinsonism". Molecular Genetics and Metabolism 81 (1): 70–3. doi:10.1016/j.ymgme.2003.11.004. PMID 14728994.

External links[edit source | edit]

GeneReviews/NCBI/UW/NIH entry on Gaucher disease
Glucocerebrosidase at the US National Library of Medicine Medical Subject Headings (MeSH)
Proteopedia Acid-beta-glucosidase

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UpToDate Contents

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1. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
2. ゴーシェ病：治療 gaucher disease treatment
3. 精神医学の最新情報 whats new in psychiatry
4. Overview of the inherited ichthyoses
5. パーキンソン病の病因および発症機序 etiology and pathogenesis of parkinson disease

English Journal

Increased glucocerebrosidase expression and activity in preeclamptic placenta.

Jebbink JM1, Boot RG2, Keijser R3, Moerland PD4, Aten J5, Veenboer GJ3, van Wely M6, Buimer M7, Ver Loren van Themaat E4, Aerts JM2, van der Post JA7, Afink GB3, Ris-Stalpers C8.
Placenta.Placenta.2015 Feb;36(2):160-9. doi: 10.1016/j.placenta.2014.12.001. Epub 2014 Dec 13.
INTRODUCTION: Lysosomal glucosidase beta acid (GBA) deficiency is inherent to Gaucher disease, Parkinsonism and Lewy-body dementia. Increased GBA expression has never been associated with human disease. We describe increased GBA expression and activity in placenta from preeclamptic pregnancies.METHO
PMID 25552189

Conformationally-locked N-glycosides: Exploiting long-range non-glycone interactions in the design of pharmacological chaperones for Gaucher disease.

Castilla J1, Rísquez R2, Higaki K3, Nanba E3, Ohno K4, Suzuki Y5, Díaz Y6, Ortiz Mellet C7, García Fernández JM8, Castillón S1.
European journal of medicinal chemistry.Eur J Med Chem.2015 Jan 27;90:258-66. doi: 10.1016/j.ejmech.2014.11.002. Epub 2014 Nov 4.
Pyranoid-type glycomimetics having a cis-1,2-fused glucopyranose-2-alkylsulfanyl-1,3-oxazoline (Glc-PSO) structure exhibit an unprecedented specificity as inhibitors of mammalian β-glucosidase. Notably, their inhibitory potency against human β-glucocerebrosidase (GCase) was found to be strongly de
PMID 25461326

Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.

Gruschus JM1, Jiang Z2, Yap TL2, Hill SA2, Grishaev A3, Piszczek G4, Sidransky E5, Lee JC6.
Biochemical and biophysical research communications.Biochem Biophys Res Commun.2015 Jan 17. pii: S0006-291X(15)00046-7. doi: 10.1016/j.bbrc.2015.01.024. [Epub ahead of print]
Mutations in the gene for the lysosomal enzyme glucocerebrosidase (GCase) cause Gaucher disease and are the most common risk factor for Parkinson disease (PD). Analytical ultracentrifugation of 8 μM GCase shows equilibrium between monomer and dimer forms. However, in the presence of its co-factor
PMID 25600808

Japanese Journal

パーキンソン病のリスクファクターとしてのglucocerebrosidase変異 (臨床遺伝子学'10)

三井純
最新医学 65(-) (825), 2152-2160, 2010-09
NAID 40017335122

Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer

Mitsui Jun,Fukuda Yoko,Azuma Kyo [他]
Journal of human genetics 55(7), 448-455, 2010-07
NAID 40017205550

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★リンクテーブル★

リンク元	「グルコセレブロシダーゼ」「glucosylceramidase」
拡張検索	「beta-glucocerebrosidase」

「グルコセレブロシダーゼ」

Glucosidase, beta, acid
	; Acid β-glucosidase, drawn from PDB 1OGS Proteopedia Acid-beta-glucosidase
Available structures
PDB	Ortholog search: PDBe, RCSB
List of PDB id codes
	1OGS, 1Y7V, 2F61, 2J25, 2NSX, 2NT0, 2NT1, 2V3D, 2V3E, 2V3F, 2VT0, 2WCG, 2WKL, 2XWD, 2XWE, 3GXD, 3GXF, 3GXI, 3GXM, 3KE0, 3KEH, 3RIK, 3RIL
Identifiers
Symbols	GBA; GBA1; GCB; GLUC
External IDs	OMIM: 606463 MGI: 95665 HomoloGene: 68040 ChEMBL: 2179 GeneCards: GBA Gene
EC number	3.2.1.45
Gene Ontology
Molecular function	• glucosylceramidase activity; • receptor binding;
Cellular component	• lysosomal membrane; • lysosomal lumen;
Biological process	• carbohydrate metabolic process; • sphingolipid metabolic process; • glucosylceramide catabolic process; • glycosphingolipid metabolic process; • cell death; • termination of signal transduction; • negative regulation of interleukin-6 production; • positive regulation of protein dephosphorylation; • negative regulation of MAP kinase activity; • small molecule metabolic process; • sphingosine biosynthetic process; • ceramide biosynthetic process; • negative regulation of inflammatory response; • cellular response to tumor necrosis factor;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs
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