Gene: GBA

Alternate names for this Gene: GBA1|GCB|GLUC

Gene 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. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q22

Description of this Gene: glucosylceramidase beta

Type of Gene: protein-coding

rs121908310 in GBA gene and GAUCHER DISEASE, PERINATAL LETHAL PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 10352942 1999 Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

rs104886460 in GBA gene and Gaucher Disease PMID 23430873 2012 A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.

PMID 1558964 1992 Mutations in Jewish patients with Gaucher disease.

PMID 10796875 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

PMID 10649495 2000 Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

PMID 16293621 2006 Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

PMID 17059888 2007 Detection of 12 new mutations in Gaucher disease Brazilian patients.

PMID 17574891 2007 Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.

PMID 9153297 1997 Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.

PMID 8790604 1994 Glucocerebrosidase mutations in Gaucher disease.

PMID 27222815 2016 Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.

PMID 22658918 2012 Novel pathogenic mutations in the glucocerebrosidase locus.

PMID 10757640 2000 Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.

PMID 20846888 2011 Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.

PMID 18338393 2008 Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

PMID 17689991 2007 Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.

PMID 27865684 2018 Clinical and molecular characteristics of patients with Gaucher disease in Southern China.

PMID 22118943 2012 DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

PMID 23588557 2013 A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

PMID 21831682 2012 The enigma of the E326K mutation in acid β-glucocerebrosidase.

PMID 1864608 1991 Three unique base pair changes in a family with Gaucher disease.

PMID 10079102 1999 Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.

PMID 27397011 2016 Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

PMID 21087600 2011 Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

PMID 16185900 2006 Hematologically important mutations: Gaucher disease.

PMID 15605411 2005 Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.

PMID 22375149 2012 Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.

PMID 20729108 2011 Clinical and genetic characteristics of Korean patients with Gaucher disease.

PMID 21982627 2011 Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

PMID 8774051 1996 Gaucher disease: four families with previously undescribed mutations.

PMID 8889578 1996 Glucocerebrosidase (Gaucher disease).

PMID 7500895 1995 Gaucher disease.

PMID 21056933 2011 A monozygotic twin pair with highly discordant Gaucher phenotypes.

PMID 17395504 2007 Genetic and clinical features of patients with Gaucher disease in Hungary.

PMID 16086325 2005 Gaucher mutation N188S is associated with myoclonic epilepsy.

PMID 20004867 2010 Gaucher disease patient with myoclonus epilepsy and a novel mutation.

PMID 15146461 2004 Expression studies revealed that the c.1093G>A (p.E326K) change, which was never found alone in a Gaucher disease-causing allele, when found in a double mutant such as [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]) and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]), decreases activity compared to the activity found for the other mutation alone.

PMID 1961718 1991 Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

PMID 30328501 2018 Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.

PMID 12587096 2003 Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

PMID 16329099 2006 Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.

PMID 12791040 2003 Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.

PMID 23430543 2013 Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

PMID 23719189 2013 A common and two novel GBA mutations in Thai patients with Gaucher disease.

PMID 7981693 1994 New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.

PMID 14757438 2004 Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.

PMID 10679038 2000 Novel point mutation (W184R) in neonatal type 2 Gaucher disease.

PMID 26220978 2015 Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.

PMID 16185907 2005 Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.

PMID 8432537 1993 Identification of six new Gaucher disease mutations.

PMID 8294487 1994 Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

PMID 25249066 2014 Glucocerebrosidase mutations in primary parkinsonism.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 25829804 2015 A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

PMID 27123476 2016 Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

PMID 27008851 2016 Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.

PMID 20947659 2011 Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

PMID 22234757 2011 Pediatric Gaucher experience in South Marmara region of Turkey.

PMID 21704274 2011 Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.

PMID 24685312 2014 Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.

PMID 2508065 1989 Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.

PMID 9279145 1997 Mutation analysis in 46 British and Irish patients with Gaucher's disease.

rs104886460 in GBA gene and Gaucher Disease, Type 1 PMID 1558964 1992 Mutations in Jewish patients with Gaucher disease.

PMID 25127542 2014 Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

PMID 12204005 2002 Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

PMID 20729108 2011 Clinical and genetic characteristics of Korean patients with Gaucher disease.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 10796875 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

PMID 10447266 1999 Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.

PMID 1974409 1990 Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.

PMID 7627184 1995 Gaucher disease in Spanish patients: analysis of eight mutations.

PMID 9650766 1998 A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.

PMID 1864608 1991 Three unique base pair changes in a family with Gaucher disease.

PMID 8829654 1996 Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.

PMID 9182788 1997 Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.

PMID 9554454 1998 Six new Gaucher disease mutations.

PMID 7475546 1995 Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

PMID 8432537 1993 Identification of six new Gaucher disease mutations.

PMID 8294033 1993 A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.

PMID 10352942 1999 Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

PMID 9683600 1998 Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.

PMID 16293621 2006 Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

PMID 1972019 1990 Sequence of two alleles responsible for Gaucher disease.

PMID 15292921 2004 Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.

PMID 15916907 2005 Use of fluorescent substrates for characterization of Gaucher disease mutations.

PMID 11359469 2001 Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.

PMID 11992489 2002 Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

PMID 8544197 1995 Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

PMID 15146461 2004 "Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms."

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 19816973 2010 Gaucher disease with communicating hydrocephalus and cardiac involvement.

PMID 2269438 1990 Prevalent and rare mutations among Gaucher patients.

PMID 24434810 2014 Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.

PMID 8889591 1996 Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.

PMID 24577513 2014 Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.

PMID 10206680 1998 A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.

PMID 22658918 2012 Novel pathogenic mutations in the glucocerebrosidase locus.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.

PMID 21098288 2010 Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

PMID 15605411 2005 Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

PMID 10340647 1999 Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.

PMID 22493294 2012 Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.

PMID 12972024 2004 The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.

PMID 8213821 1993 Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.

PMID 9240741 1996 Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.

PMID 23699752 2013 Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.

PMID 23588557 2013 A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

PMID 7916532 1994 DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.

PMID 27735925 2017 Most children with the p.N409S/p.N409S and p.N409S/p.R535H GD1 genotypes have minimal disease manifestations and progression during childhood and can be monitored using limited assessments.

PMID 29527153 2018 Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.

PMID 18338393 2008 Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

PMID 17395504 2007 Genetic and clinical features of patients with Gaucher disease in Hungary.

PMID 19846850 2009 Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

PMID 22592100 2012 Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.

PMID 25456120 2014 iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.

PMID 8294487 1994 Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

PMID 22451204 2012 Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

PMID 18979180 2008 Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.

PMID 26905200 2016 ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

PMID 25653295 2015 Differential effects of severe vs mild GBA mutations on Parkinson disease.

PMID 24756352 2014 Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.

PMID 26868973 2016 Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.

PMID 26096741 2015 Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.

PMID 3353383 1988 Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.

PMID 15954102 2005 Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.

PMID 12595585 2003 V394L, G377S, and N188S are mutations that have previously been associated with non-neuronopathic Gaucher disease.

PMID 21257328 2011 Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.

PMID 2508065 1989 Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.

PMID 24482953 2013 Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.

PMID 24522292 2014 Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

PMID 9279145 1997 Mutation analysis in 46 British and Irish patients with Gaucher's disease.

PMID 8118463 1994 DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?

PMID 1704891 1991 Characterization of human glucocerebrosidase from different mutant alleles.

PMID 18586596 2008 Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.

PMID 12595585 2003 Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

PMID 1348297 1992 Genetic diagnosis of Gaucher's disease.

rs121908295 in GBA gene and Gaucher Disease, Type 2 (disorder) PMID 10796875 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

PMID 16293621 2006 Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

PMID 7627192 1995 Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.

PMID 9851895 1998 A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.

PMID 9279145 1997 Mutation analysis in 46 British and Irish patients with Gaucher's disease.

PMID 9637431 1998 Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.

PMID 9554454 1998 Six new Gaucher disease mutations.

PMID 21098288 2010 Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

rs121908310 in GBA gene and Gaucher Disease, Type 3 (disorder) PMID 8780099 1996 Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.

rs75822236 in GBA gene and Intracranial Aneurysm PMID 30823506 2019 Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.

rs2230288 in GBA gene and Parkinson Disease PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.