rs398123064
This is a variant in the GBA2 gene that changes a aspartate to an histidine.
▶ClinVar annotation
About GBA2
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]
View all GBA2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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