Glucocerebrosidase

Glucocerebrosidase

__NOTOC__Glucocerebrosidase (also called glucosylceramidase, β-glucosidase, or D-glucosyl-N-acylsphingosine glucohydrolase) is an enzyme (EC number|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 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. [cite web | title = Entrez Gene: GBA glucosidase, beta; acid (includes glucosylceramidase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2629| accessdate = ]

ee also

* Imiglucerase
* Beta-glucosidase

References

Further reading

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citations =
*cite journal | author=Horowitz M, Zimran A |title=Mutations causing Gaucher disease. |journal=Hum. Mutat. |volume=3 |issue= 1 |pages= 1–11 |year= 1994 |pmid= 8118460 |doi= 10.1002/humu.1380030102
*cite journal | author=Tayebi N, Stone DL, Sidransky E |title=Type 2 gaucher disease: an expanding phenotype. |journal=Mol. Genet. Metab. |volume=68 |issue= 2 |pages= 209–19 |year= 2000 |pmid= 10527671 |doi= 10.1006/mgme.1999.2918
*cite journal | author=Stone DL, Tayebi N, Orvisky E, "et al." |title=Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. |journal=Hum. Mutat. |volume=15 |issue= 2 |pages= 181–8 |year= 2000 |pmid= 10649495 |doi= 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S |doilabel=10.1002/(SICI)1098-1004(200002)15:2181::AID-HUMU73.0.CO;2-S
*cite journal | author=Caillaud C, Poenaru L |title= [Gaucher's and Fabry's diseases: biochemical and genetic aspects] |journal=J. Soc. Biol. |volume=196 |issue= 2 |pages= 135–40 |year= 2002 |pmid= 12360742 |doi=
*cite journal | author=Fabrega S, Durand P, Mornon JP, Lehn P |title= [The active site of human glucocerebrosidase: structural predictions and experimental validations] |journal=J. Soc. Biol. |volume=196 |issue= 2 |pages= 151–60 |year= 2002 |pmid= 12360744 |doi=
*cite journal | author=Alfonso P, Aznarez S, Giralt M, "et al." |title=Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. |journal=J. Hum. Genet. |volume=52 |issue= 5 |pages= 391–6 |year= 2007 |pmid= 17427031 |doi= 10.1007/s10038-007-0135-4

External links

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Look at other dictionaries:

  • Glucocerebrosidase — Bändermodell des GBA Tetramer, nach PDB  …   Deutsch Wikipedia

  • Glucocerebrosidase deficiency — Causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of… …   Medical dictionary

  • glucocerebrosidase — noun An enzyme that is needed to cleave, by hydrolysis, the beta glucosidic linkage of glucocerebroside, an intermediate in glycolipid metabolism, and mutations in which cause Gauchers disease …   Wiktionary

  • glucocerebrosidase — glu·co·ce·re·bro·si·dase .ser ə brō sə .dās, .dāz n an enzyme of mammalian tissue that catalyzes the hydrolysis of the glucose part of a glucocerebroside and is deficient in patients affected with Gaucher s disease * * * glu·co·cer·e·bro·si·dase… …   Medical dictionary

  • glucocerebrosidase — n. type of enzyme from the hydrolase group that speeds up the process of hydrolysis and if is lacking in the body is likely to result in serious illness (Medicine) …   English contemporary dictionary

  • glucocerebrosidase — glu·co·cer·e·bro·si·dase …   English syllables

  • glucocerebrosidase — ˌglükōˌserəbrōˈsīˌdās, āz noun ( s) Etymology: glucocerebroside (herein) + ase : an enzyme of mammalian tissue that catalyzes the hydrolysis of the glucose part of a glucocerebroside and is deficient in patients affected with Gaucher s disease …   Useful english dictionary

  • Deficiency, glucocerebrosidase — Causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of… …   Medical dictionary

  • β-glucocerebrosidase — An enzyme that hydrolyzes β glucosides in cerebrosides; a deficiency of this enzyme results in Gaucher disease …   Medical dictionary

  • Glukocerebrosidase — Glucocerebrosidase Vorhandene Strukturdaten: 1ogs …   Deutsch Wikipedia

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