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Validated All-in-One™ qPCR Primer for GBA1(NM_001005742.3) Search again
Product ID:
HQP154218
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
GBA, GCB, GLUC
Gene Description:
glucosylceramidase beta 1
Target Gene Accession:
NM_001005742.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene 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.
Gene References into function
- simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene
- A protocol is described for the isolation of genomic DNA from formalin-fixed bone marrow aspirate archival specimens.
- seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T-->A) were identified by direct sequencing
- In conclusion, 12% of Hypoalphalipoproteinemia subjects were found to carry mutations in apo A-I, LCAT, or GBA genes
- PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations.
- incidence of the most common mutations and phenotypic manifestations in Romanian Gaucher disease patients
- Review. Beta-glucosidase deficiency causes autosomal recessive Gaucher disease. Cloning of the gene has allowed the characterization of few common mutations. Some have a prognostic value, favoring either a non neurological form or more severe forms.
- Review. 2-dimensional hydrophobic cluster analysis was used to make structure predictions for the catalytic domains of clan GH-A glycoside hydrolases. Glu 235 & Glu 340 do indeed play key roles in the active site of human glucocerebrosidase as predicted.
- N-n-nonyl-deoxynojirimycin chaperones beta-Glu folding at neutral pH, thus allowing the stabilized enzyme to transit from the endoplasmic reticulum to the Golgi, enabling proper trafficking to the lysosome.
- Reciprocal and nonreciprocal recombination at this region implies complexity in Gaucher disease.
- substrate specificity of the cytosolic enzyme
- X-ray structure of acid-beta-glucosidase at 2.0 A resolution
- report a 36-year-old Turkish man with type I Gaucher's disease with homozygous R463C mutation without neurological involvement
- Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C
- Mutations in Glucocerebrosidase is associated with Gaucher disease
- a baculovirus-derived expression system to express cDNAs bearing several mutations found in Spanish Gaucher disease patients
- Six of 16 haplotypes were found, and none was over- or underrepresented among patients with the severe Gaucher disease phenotypes compared with those from patients with mild phenotypes.
- The N370S allele of glucosidase, beta (nt.1226 A>G) may be associated with Parkinson's disease in patients of Jewish ethnicity.
- Our results demonstrate a marginally significant association of GBA mutations with Parkinson's disease and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD.
- heterozygosity for a GBA mutation may predispose Ashkenazi Jews to Parkinson's disease
- mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism
- alteration in water permeability barrier in lesional psoriatic skin can serve as a trigger for the upregulation of the expression of enzymes like GlcCer'ase with consequent stimulation of ceramide generation.
- Expression of novel GBA mutations revealed that the enzyme defect could arise from one of two mechanisms: loss of catalytic activity (Y363C and M416V) or enzyme instability (P122L and N382K).
- The high frequency of the E326K substitution observed in patients with GD type 2 suggests that this change may have a modulating negative effect on the clinical condition of these Gaucher disease patients when present in combination with mutation L444P.
- Data describe the intracellular trafficking of glucocerebrosidase as an underlying mechanism for the expression of the clinical phenotype.
- the glucocerebrosidase Gaucher mutation N188S associated with myoclonic epilepsy
- The overall clinical manifestations and age at Parkinson disease onset of Ashkenazi Jews did not differ in patients with GBA mutations compared to patients without mutations.
- Two novel disease-causing splicing mutations in the glucocerebrosidase gene, g.4252C>G and g.4426A>G, that have been found in two patients affected by Gaucher disease.
- This study does not indicate increased susceptibility to Parkinson disease in glucocerebrosidase mutations carriers in Norway.
- Mutations in glucocerebrosidase are identified at an increased frequency among Parkinson probands, including those of Ashkenazi Jewish ancestry.
- Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
- the double D409H+H255Q allele may have a role in type II Gaucher disease within specific populations
- Turning off hGCase expression led to storage cell reaccumulation of GC and macrophage activation in liver, lung, and spleen, demonstrating that conditionally expressed hGCase supplements mutant mouse GCase controlling visceral substrate accumulation
- Isofagomine binds to the acid beta-glucosidase (GCase) active site, and both increases GCase activity in cell lysates and restores lysosomal trafficking in cells containing N370S mutant GCase.
- identified 98.7% of mutated GBA alleles, finding 56 different mutations & 66 genotypes causing Gaucher disease in Spain: 47 previously described & 9 novel; findings indicate genotypic heterogeneity explaining phenotypic variation in Spanish GD patients
- study demonstrates that GBA mutations are also encountered in Chinese subjects with sporadic Parkinson disease (PD) at higher frequency than many other PD genes & association of GBA mutations with development of PD is not related to ethnic origin
- report from Lebanon describes a family with Gaucher disease caused by a heterozygous genotype of a rare mutation, R48W, and a common one, L444P
- The L444P mutation is associated with an increased risk of PD anmong the Chinese population.
- gene sequencing and mRNA analysis in four patients from three unrelated families with type 3 Gaucher disease
- Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.
- evidence for glucocerebrosidase gene mutations being a possible hereditary risk factor for PD.
- Clinical manifestation of Gaucer disease is driven by point mutation and the placement of S-binding sites.
- This study suggests that the Glucocerebrosidase gene may be a susceptibility gene for Parkinson disease and that Glucocerebrosidase mutations may modify age at onset.
- Association of GBA gene mutation and Gaucher disease.
- These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD.
- 126 mutation alleles from 136 investigated alleles were identified.
- Asparagine 370 Serine mutation is responsible for Gaucher disease.
- first report of a Gaucher disease patient carrier of de novo mutation, without previous family history of this mutation
- We observed a significantly higher heterozygote frequency for the 2 mutations (N370S and L444P) in patients with PD and those with DLB.
- discuss the spectrum of glucocerebrosidase mutations and their distribution in the patient population, evolutionary conservation, clinical presentations, and how they may affect the structure and function of glucocerebrosidase
- Using 5 microsatellite polymorphisms near the GBA gene, 37 chromosomes analysed showed that most of them share a common haplotype and are consistent with a single origin in the Balkans and the Adriatic area of Italy for the D409H;H255Q allele.
- These data demonstrate genotype-phenotype correlations between different glucocerebrosidase mutations and Parkinson disease (PD) risk and age at PD onset in Ashkenazi Jews.
- Strong evidence for linkage was detected on the chromosome 2q35-q36 region (logarithm of odds score of 3.01). Therefore, this region might harbor a novel important gene for DLB.
- GENOTYPE/PHENOTYPE RELATIONSHIPS IN GAUCHER DISEASE
- The low levels of human lysosomal glucocerebrosidase activity results from a cryptic splice site present in the wildtype Gcc complementary DNA.
- In the homozygous and heterozygous states, GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease, mostly of the akinetic type, to a less common phenotype characteristic of Lewy body dementia.
- GBA is a susceptibility gene for familial Parkinson disease (PD); patients with GBA variants have an earlier age at onset than patients with PD without GBA variants