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GBA glucosidase, beta, acid [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu22331 NM_001005741 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu22337 NM_001171811 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 4, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu22347 NM_001171812 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 5, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu22331 NM_000157 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu22331 NM_001005742 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu22331 XM_006711270 PREDICTED: Homo sapiens glucosidase, beta, acid (GBA), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu54570 XM_006726211 PREDICTED: Homo sapiens glucosidase, beta, acid (GBA), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu22331C NM_001005741 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 2, mRNA. Customized vector In-stock 5-7 $149.00
OHu22337C NM_001171811 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 4, mRNA. Customized vector In-stock 5-7 $149.00
OHu22347C NM_001171812 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 5, mRNA. Customized vector On-demand 7-9 $269.00
OHu22331C NM_000157 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. Customized vector In-stock 5-7 $149.00
OHu22331C NM_001005742 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, mRNA. Customized vector In-stock 5-7 $149.00
OHu22331C XM_006711270 PREDICTED: Homo sapiens glucosidase, beta, acid (GBA), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00
OHu54570C XM_006726211 PREDICTED: Homo sapiens glucosidase, beta, acid (GBA), transcript variant X1, mRNA. Customized vector On-demand 7-9 $269.00

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Gene Symbol GBA
Entrez Gene ID 2629
Full Name glucosidase, beta, acid
Synonyms GBA1, GCB, GLUC
General protein information
Preferred Names
glucosylceramidase
Names
glucosylceramidase
alglucerase
imiglucerase
acid beta-glucosidase
beta-glucocerebrosidase
lysosomal glucocerebrosidase
D-glucosyl-N-acylsphingosine glucohydrolase
NP_000148.2
NP_001005741.1
NP_001005742.1
NP_001165282.1
NP_001165283.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q21

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. [provided by RefSeq, Jan 2010].
Disorder

MIM: 606463

Gaucher disease, type I, 230800(3); Gaucher disease, type II, 230900

mRNA Protein Product Sequence Price Select
NM_000157, 284807148 NP_000148, 54607043 glucosylceramidase isoform 1 precursor ORF Sequence $360.00
NM_001005741, 284807147 NP_001005741, 54607045 glucosylceramidase isoform 1 precursor ORF Sequence $360.00
NM_001005742, 284807146 NP_001005742, 54607047 glucosylceramidase isoform 1 precursor ORF Sequence $360.00
NM_001171811, 284807149 NP_001165282, 284807150 glucosylceramidase isoform 2 ORF Sequence $360.00
NM_001171812, 284807151 NP_001165283, 284807152 glucosylceramidase isoform 3 precursor ORF Sequence $550.00
XM_006711270, 578800808 XP_006711333, 578800809 glucosylceramidase isoform X1 ORF Sequence $550.00
XM_006726211, 578839331 XP_006726274, 578839332 glucosylceramidase isoform X1 ORF Sequence $550.00
KEGG
hsa00600Sphingolipid metabolism
hsa00511Other glycan degradation
hsa04142Lysosome
Reactome
REACT_19323Sphingolipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_116105Glycosphingolipid metabolism
Homo sapiens (human)GBANP_001005742.1
Pan troglodytes (chimpanzee)GBANP_001008997.1
Canis lupus familiaris (dog)GBAXP_855035.1
Bos taurus (cattle)GBANP_001039886.1
Mus musculus (house mouse)GbaNP_001070879.1
Rattus norvegicus (Norway rat)GbaNP_001121111.1
Gallus gallus (chicken)LOC101748171XP_004950417.1
Gallus gallus (chicken)LOC101750375XP_004950434.1
Danio rerio (zebrafish)gbaXP_687471.3
Caenorhabditis elegansgba-3NP_503119.1
Caenorhabditis elegansgba-1NP_001040750.1
Caenorhabditis elegansgba-2NP_494208.2
Caenorhabditis elegansgba-4NP_500785.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processIEA
GO:0006665sphingolipid metabolic processTAS
GO:0006680glucosylceramide catabolic processIMP
GO:0006687glycosphingolipid metabolic processTAS
GO:0008219cell deathIEA
GO:0009268response to pHIEA
GO:0023021termination of signal transductionIMP
GO:0032715negative regulation of interleukin-6 productionIDA
GO:0033561regulation of water loss via skinIEA
GO:0033574response to testosteroneIEA
GO:0035307positive regulation of protein dephosphorylationIMP
GO:0043407negative regulation of MAP kinase activityIMP
GO:0043589skin morphogenesisIEA
GO:0043627response to estrogenIEA
GO:0044281small molecule metabolic processTAS
GO:0046512sphingosine biosynthetic processIMP
GO:0046513ceramide biosynthetic processIMP
GO:0050728negative regulation of inflammatory responseIC
GO:0051384response to glucocorticoidIEA
GO:0071356cellular response to tumor necrosis factorIMP
GO:0097066response to thyroid hormoneIEA
Component
IDNameEvidence
GO:0005765lysosomal membraneIDA
GO:0005765lysosomal membraneISS
GO:0005765lysosomal membraneTAS
GO:0043202lysosomal lumenISS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004348glucosylceramidase activityIDA
GO:0005102receptor bindingISS
GO:0005515protein bindingIPI
GeneCards GBA
UniProt B7Z6S9, P04062
Vega OTTHUMG00000035841
MIM 606463
Ensembl ENSG00000177628
HGNC 4177
HPRD 06973

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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