Gaucher+1

What is the GBA gene?

The glucosidase, beta, acid gene, commonly referred to as the GBA gene encodes a lysosomal membrane protein that cleaves the Beta-glucosidic linkage of glycosylceramid, an intermediate in glycolipid metabolism. Beta-glucocerebrosidase is an enzyme that is active in breaking down a large molecule of glucocerebroside into a sugar (glucose) and a more simple molecule (ceramide). The cytogenetic short hand location of the gene is 1q21 indicating that the gene is located on chromosome 1, on the long (q) arm at position 21. Molecular location of the gene is in between base pairs 155, 204, 238 to 155, 214, 652 (8).

Many different gene mutations can occur within this GBA gene- causing variety of the same debilitating disorder.



The figure above illustrates that glucocerebrosidase hydrolyzes its primary substrate glucosylceramide into glucose and ceramide. An alternate substrate, glucosylsphingosine, is also degraded into glucose and sphingosine. The great importance of this pathway is obvious in that a build-up is inevitable without the proper amount of the enzyme to break it down to usable energy (4).

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