GAA 蛋白
(Glucosidase, Alpha, Acid (GAA))
This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. 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. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
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13 results
GAA
宿主: 人
宿主: Mammalian Cells
Recombinant
>90 % as determined by SDS-PAGE.
WB, SDS, Imm, ELISA, AcA
Active
Aliases for GAA 蛋白
glucosidase alpha, acid (GAA) 蛋白glucosidase, alpha, acid (Gaa) 蛋白
transmembrane and coiled-coil domain family 1 (TMCC1) 蛋白
glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) (gaa) 蛋白
glucosidase alpha, acid (Gaa) 蛋白
E430018M07Rik 蛋白
LYAG 蛋白
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