GBA2 (NM_020944) - glucosylceramidase beta 2
Non-Lysosomal Glucosylceramidase Isoform 1
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Protein summary
This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008].
Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Evidence data:
Transcript exon combination :: AJ309567.1, SRR1803615.253153.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
- Strand
- -
- Chromosome
- 9
- Protein
- 927 residues
- All mutations
- 176
- PTM sites
- 5
- CDS
- 35,737,165 - 35,748,701
- Transcription
- 35,736,862 - 35,749,225
Usage summary
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PTM site
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Kinase, PTM site or protein
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