Full name: glucosidase, alpha, acid

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: E430018M07Rik

Summary: This gene encodes a lysosomal acid glucosidase that is involved in the degradation of glycogen. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen, maltose and intermediate oligosaccharides within the lysosome. Mice lacking the encoded protein exhibit symptoms similar to human Pompe syndrome such as accumulation of glycogen in cardiac and skeletal muscle lysosomes resulting in reduced mobility and strength. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]

Expression: Ubiquitous expression in adrenal adult (RPKM 130.6), ovary adult (RPKM 120.8) and 28 other tissues

Gene size: 17496bp

Exon count: 20