GAA
Lysosomal alpha-glucosidase
Protein Summary
Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980). 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]
- ENST00000302262
- ENSP00000305692
- ENSG00000171298
- ENST00000390015
- ENSP00000374665
- LYAG
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
histone modification site profile | 0.89 | ||
transcription factor perturbation | 0.88 | ||
protein domain | 0.85 | ||
disease perturbation | 0.83 | ||
cellular component | 0.8 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 212.59 (req: < 5)
Gene RIFs: 63 (req: <= 3)
Antibodies: 296 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 212.59 (req: >= 5)
Gene RIFs: 63 (req: > 3)
Antibodies: 296 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 20
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 9
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drugs: 4