GBA - Glucosylceramidase - human protein (Medical)
 
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GBA »  Glucosylceramidase   [ EC 3.2.1.45 ]
 
Protein also known as:  D-glucosyl-N-acylsphingosine glucohydrolase.
Gene name:  GBA
Family name: Glycosyl hydrolase 30
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Long     

 
 

Medical

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Disease 
Gaucher disease (GD) [MIM:230800]: A lysosomal storage disease due to deficient activity of beta- glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Gaucher disease 1 (GD1) [MIM:230800]: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Gaucher disease 2 (GD2) [MIM:230900]: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Gaucher disease 3 (GD3) [MIM:231000]: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Gaucher disease 3C (GD3C) [MIM:231005]: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Gaucher disease perinatal lethal (GDPL) [MIM:608013]: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.  
  • CuratedUniProtKB
Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. Disease susceptibility may be associated with variations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Dementia with Lewy body  1648  
Fetal Gaucher disease  85212  
Gaucher disease - ophthalmoplegia - cardiovascular calcification  2072  
Gaucher disease type 1  77259  
Gaucher disease type 2  77260  
Gaucher disease type 3  77261  
Parkinson disease  319705  
Young adult-onset Parkinsonism  2828  
Pharmaceutical 
Available under the names Ceredase and Cerezyme (Genzyme). Used to treat Gaucher's disease.  
  • CuratedUniProtKB
According to DrugBank, this protein binds/interacts with the following drugs:
Alglucerase  DB00088  
Imiglucerase  DB00053  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Gaucher disease  definition   [KW-0307]
Ichthyosis  definition   [KW-0977]
Neurodegeneration  definition   [KW-0523]
Parkinson disease  definition   [KW-0907]
Parkinsonism  definition   [KW-0908]
Technical term 
Pharmaceutical  definition   [KW-0582]
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2629
MIM: 168600
MIM: 230900
MIM: 608013
MIM: 231000
MIM: 231005
MIM: 230800
PharmGKB: PA28591
Polymorphism databases
DMDM: 55584151
Protein family/group databases
Allergome: 8244 [ Hom s Glucocerebrosidase ]
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.