Glucocerebrosidase

Glucosidase, beta; acid (includes glucosylceramidase)
Acid β-glucosidase, drawn from PDB 1OGS.
Available structures: 1ogs, 1y7v, 2f61, 2j25, 2nsx, 2nt0, 2nt1
Identifiers
Symbol(s)	GBA; GBA1; GCB; GLUC
External IDs	OMIM: 606463 MGI: 95665 Homologene: 68040
Gene ontology Molecular Function: • catalytic activity • glucosylceramidase activity • hydrolase activity, acting on glycosyl bonds • cation binding Cellular Component: • lysosome • membrane Biological Process: • carbohydrate metabolic process • lipid metabolic process • sphingolipid metabolic process • lysosome organization and biogenesis • metabolic process
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	2629	14466
Ensembl	ENSG00000177628	ENSMUSG00000028048
Uniprot	P04062	Q78NR7
Refseq	NM_000157 (mRNA) NP_000148 (protein)	NM_001077411 (mRNA) NP_001070879 (protein)
Location	Chr 1: 153.47 - 153.48 Mb	Chr 3: 89.29 - 89.29 Mb
Pubmed search	[1]	[2]

Glucocerebrosidase (also called glucosylceramidase, β-glucosidase, or D-glucosyl-N-acylsphingosine glucohydrolase) is an enzyme (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 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 encoding the same protein.

See also

• Imiglucerase
• Beta-glucosidase

Further reading

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

External links

• MeSH Glucocerebrosidase

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