gaa alpha glucosidase [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: gaaprovided by ZNC
Official Full Name: alpha glucosidaseprovided by ZNC
Primary source: ZFIN:ZDB-GENE-070212-2
See related: AllianceGenome:ZFIN:ZDB-GENE-070212-2
Gene type: protein coding
RefSeq status: MODEL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Enables alpha-glucosidase activity. Involved in glycogen catabolic process. Acts upstream of or within cholinergic synaptic transmission and neuromuscular synaptic transmission. Predicted to be located in lysosomal membrane. Is expressed in several structures, including eye; heart; liver; muscle; and pleuroperitoneal region. Used to study glycogen storage disease II. Human ortholog(s) of this gene implicated in glycogen storage disease II. Orthologous to human GAA (alpha glucosidase). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs: human mouse all
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Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	3	NC_007114.7 (18413196..18435692)
105	previous assembly	GRCz10 (GCF_000002035.5)	3	NC_007114.6 (18263255..18285944)

Chromosome 3 - NC_007114.7 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II
Title: Disruption of the gaa Gene in Zebrafish Fails to Generate the Phenotype of Classical Pompe Disease.

Submit: New GeneRIF Correction

Function	Evidence Code	Pubs
enables alpha-glucosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycogen catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic transmission, cholinergic	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

Names: glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)

XP_001921957.2

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The following sections contain reference sequences that belong to a specific genome build. Explain