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Gene : GBA2 Homo sapiens

Name  ? glucosylceramidase beta 2 Cytological Location  9p13.3
Brief Description  glucosylceramidase beta 2
Description  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]
  • synonyms:
  • OTTHUMG00000021024,
  • DKFZp762K054,
  • uc003zxw.3,
  • AJ309567,
  • HGNC:18986,
  • spastic paraplegia 46 (autosomal recessive),
  • glucosidase, beta (bile acid) 2,
  • SPG46,
  • AD035,
  • SPG46,
  • AD035,
  • NM_020944,
  • bile acid beta-glucosidase,
  • KIAA1605,
  • non-lysosomal glucosylceramidase,
  • GBA2,
  • NLGase
  • identifiers:
  • 57704,
  • ENSG00000070610,
  • GBA2

Genome feature

Region: gene ? Length: 12367  
Location: 9:35736862-35749228 reverse strand Cyto location: 9p13.3


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3753 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results