NS Reagents GBA Antibody

GBA Antibody (Cat No: AB19-10120)

Lysosomal acid glucosylceramidase (GBA or Glucocerebrosidase) is the lysosomal hydrolase that hydrolyzes glucosylceramide (GC) and glucosylsphingosine (GS) to ceramide and sphingosine. It is a 536-amino-acid membrane-associated protein with a 39-amino-acid leader sequence that is cleaved to produce a 497-amino-acid mature protein.

Mutations in the GBA gene cause Gaucher disease, a lysosomal storage disease characterised by an accumulation of glucocerebrosides. Patients with Gaucher disease and heterozygous carriers are at increased risk of developing Parkinson's disease and Dementia with Lewy Bodies.

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