GBA

GENE INFORMATION

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Gene name

GBA (HGNC Symbol)

Synonyms

GBA1, GLUC

Description

Glucosidase, beta, acid (HGNC Symbol)

Entrez 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. [provided by RefSeq, Jan 2010]

Chromosome

1

Cytoband

q22

Chromosome location (bp)

155204243 - 155214490

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000177628 (version 75.37)

Entrez gene

2629

UniProt

P04062 (UniProt - Evidence at protein level)

neXtProt

NX_P04062

Antibodypedia

GBA antibodies
 

PROTEIN VIEW

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GBA-001
 
GBA-002
 
GBA-015
 
GBA-016
 
GBA-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GBA-001 ENSP00000357357
ENST00000368373
P04062
Show all »
Show » Show » 536 59.7 Yes 0
GBA-002 ENSP00000314508
ENST00000327247
P04062
Show all »
Show » Show » 536 59.7 Yes 0
GBA-015 ENSP00000402577
ENST00000427500
J3KQK9
Show all »
Show » Show » 487 54.5 Yes 0
GBA-016 ENSP00000397986
ENST00000428024
J3KQG4
Show all »
Show » Show » 449 50.3 No 0
GBA-201 ENSP00000445560
ENST00000536770
F5H241
Show all »
Show » Show » 423 47.6 Yes 0