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Sequence in raw or FASTA format:

Database:

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


RefSeq Accession Definition Services Price Order
NM_000157 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. ORF Sequence $467.19
Peptide Services
Antibody Services
Protein Services
NM_001005741 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 2, mRNA. ORF Sequence $467.19
Peptide Services
Antibody Services
Protein Services
NM_001005742 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, mRNA. ORF Sequence $467.19
Peptide Services
Antibody Services
Protein Services
NM_001171811 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 4, mRNA. ORF Sequence $391.50
Peptide Services
Antibody Services
Protein Services
NM_001171812 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 5, mRNA. ORF Sequence $424.56
Peptide Services
Antibody Services
Protein Services


Gene Symbol GBA
Entrez Gene ID 2629
Full Name glucosidase, beta, acid
Synonyms GBA1, GCB, GLUC
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 Full Length $673.96
ORF Sequence $467.19
NM_001005741, 284807147 NP_001005741, 54607045 glucosylceramidase isoform 1 precursor Full Length $749.07
ORF Sequence $467.19
NM_001005742, 284807146 NP_001005742, 54607047 glucosylceramidase isoform 1 precursor Full Length $743.56
ORF Sequence $467.19
NM_001171811, 284807149 NP_001165282, 284807150 glucosylceramidase isoform 2 Full Length $696.00
ORF Sequence $391.50
NM_001171812, 284807151 NP_001165283, 284807152 glucosylceramidase isoform 3 precursor Full Length $630.46
ORF Sequence $424.56
KEGG
hsa00511Other glycan degradation
hsa00600Sphingolipid metabolism
hsa04142Lysosome
Reactome
REACT_111217Metabolism
REACT_116105Glycosphingolipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_19323Sphingolipid metabolism
REACT_120870Phospholipid 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
Danio rerio (zebrafish)LOC559072XP_687471.3
Drosophila melanogaster (fruit fly)CG31414NP_001097888.1
Drosophila melanogaster (fruit fly)CG31148NP_651172.1
Caenorhabditis elegansgba-4NP_500785.1
Caenorhabditis elegansgba-1NP_001040750.1
Caenorhabditis elegansgba-2NP_494208.2
Caenorhabditis elegansgba-3NP_503119.1

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

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

Interactant

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