Gaa - glucosidase, alpha, acid Gene

Mus musculus

Also known as E430018M07Rik

Gene ID: 14387 | Gene type: protein coding

About Gaa

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]

Gaa Products(2)

mRNA	Protein	Name
NM_001159324.2	NP_001152796.1	lysosomal alpha-glucosidase preproprotein
NM_008064.4	NP_032090.3	lysosomal alpha-glucosidase preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables alpha-1,4-glucosidase activity	IDA IDA: Inferred from direct assay	7323947	MGI
enables alpha-1,4-glucosidase activity	IMP IMP: Inferred from mutant phenotype	9384603	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within aorta development	IMP IMP: Inferred from mutant phenotype	32428018	MGI
acts upstream of or within diaphragm contraction	IMP IMP: Inferred from mutant phenotype	15169761	MGI
acts upstream of or within glycogen catabolic process	IMP IMP: Inferred from mutant phenotype	10838256	MGI
acts upstream of or within glycogen metabolic process	IMP IMP: Inferred from mutant phenotype	9384603	MGI
involved in glycophagy	IMP IMP: Inferred from mutant phenotype	12739885	MGI
acts upstream of or within heart morphogenesis	IMP IMP: Inferred from mutant phenotype	9384603	MGI
acts upstream of or within locomotory behavior	IMP IMP: Inferred from mutant phenotype	9668092	MGI
acts upstream of or within lysosome organization	IMP IMP: Inferred from mutant phenotype	9384603	MGI
acts upstream of or within muscle cell cellular homeostasis	IMP IMP: Inferred from mutant phenotype	9668092	MGI
acts upstream of or within neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	10838256	MGI
acts upstream of or within neuromuscular process controlling posture	IMP IMP: Inferred from mutant phenotype	10547605	MGI
acts upstream of or within regulation of the force of heart contraction	IMP IMP: Inferred from mutant phenotype	11328962	MGI
acts upstream of or within striated muscle contraction	IMP IMP: Inferred from mutant phenotype	12115977	MGI
acts upstream of or within tissue development	IMP IMP: Inferred from mutant phenotype	10547605	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
is active in autolysosome lumen	IMP IMP: Inferred from mutant phenotype	9668092	MGI
located in lysosome	IMP IMP: Inferred from mutant phenotype	15207257	MGI
located in membrane	IMP IMP: Inferred from mutant phenotype	20080761	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

lysosomal alpha-glucosidase

acid maltase

Related Agents

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-132609	Patisiran sodium		99.09%	Unkown
HY-132611	Golodirsen	Modulator	92.00%	Unkown

Clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Phase
HY-132596	Tivanisiran	Inhibitor	92.62%	Phase 3
HY-147412	Ultevursen		/	Phase 3
HY-150724	ODN 1018	Agonist	99.28%	Phase 2
HY-132602	Remlarsen	Agonist	92.27%	Phase 2
HY-148100	Emapticap pegol	Inhibitor	91.38%	Phase 2

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-132608	Inotersen sodium		96.44%	Unkown
HY-150738	ODN 2088	Antagonist	93.63%	Unkown
HY-108753	Eteplirsen		98.50%	Unkown
HY-150736	ODN 20844	Inhibitor	92.60%	Unkown
HY-150750	ODN M362		93.61%	Unkown
HY-147217	Bepirovirsen	Inhibitor	98.44%	Unkown
HY-145725A	Baliforsen	Inhibitor	94.33%	Unkown
HY-132586	Viltolarsen	Modulator	95.25%	Unkown
HY-150744	ODN 24888	Inhibitor	/	Unkown
HY-144124	5-C-heptyl-DNJ	Inhibitor	/	Unkown
HY-150215	ODN 105870	Inhibitor	/	Unkown
HY-150740	ODN 21595	Inhibitor	/	Unkown
HY-154995	N-4′-(p-Trifluoromethylphenyl)butyl-DAB	Inhibitor	/	Unkown
HY-E70183	Lysosomal α-Glucosidase		/	Unkown
HY-RS05196	GAA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17242	Gaa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23696	Gaa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Gaa	NCBI	NCBI:2548

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