Full name: alpha glucosidase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: LYAG

Summary: This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Expression: Ubiquitous expression in testis (RPKM 28.0), placenta (RPKM 26.2) and 25 other tissues

Gene size: 18301bp

Exon count: 21