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Symbol report for GAA

HGNC data for GAA

Approved symbol
GAA
Approved name

alpha glucosidase

Locus type
gene with protein product
HGNC ID
HGNC:4065
Symbol status
Approved
Previous names
glucosidase, alpha; acid
glucosidase alpha, acid
Alias names
Pompe disease
glycogen storage disease type II
Chromosomal location
17q25.3
Gene groups
Gene resources for GAA
Ensembl
ENSG00000171298 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
2548 Curated
UCSC
uc002jxo.4
Alliance of Genome Resources
HGNC:4065
Nucleotide resources for GAA
MANE Select
NM_000152.5
ENST00000302262.8
RefSeq
NM_000152
NCBI sequence viewer
CCDS
CCDS32760 Curated
Protein resources for GAA
UniProt/Swiss-Prot
P10253
InterProPDBeReactome
AlphaFold
AF-P10253-F1
Enzyme Commission
3.2.1.20 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for GAA
Bos taurus
GAA VGNC:29182 VGNC
Canis familiaris
GAA VGNC:41044 VGNC
Equus caballus
GAA VGNC:18184 VGNC
Felis catus
GAA VGNC:62411 VGNC
Macaca mulatta
GAA VGNC:72841 VGNC
Mus musculus
Gaa MGI:95609 Curated
Pan troglodytes
GAA VGNC:9298 VGNC
Rattus norvegicus
Gaa RGD:735227
Sus scrofa
GAA VGNC:88293 VGNC
Specialist resources for GAA
IUPHAR/BPS Guide to PHARMACOLOGY
2611
Clinical resources for GAA
OMIM
606800
LRG
LRG_673 Curated
LSDB
GAA - Pompe disease (glycogen storage disease type II) Curated
Global Variome shared LOVD Curated
GenCC
HGNC:4065
MedlinePlus
Search via GAA
DECIPHER
Search via GAA
ClinGen
Search via HGNC:4065
Genetic Testing Registry
Search via NCBI Gene ID 2548
ClinVar
Search via NCBI Gene ID 2548
dbVar
Search via NCBI Gene ID 2548
Orphanet
121987
Other resources for GAA
AmiGO
Search via P10253
QuickGO
Search via P10253
BioGPS
Search via NCBI Gene ID 2548
GeneCards
Search via HGNC:4065
Monarch
Search via HGNC:4065
WikiGenes
Search via NCBI Gene ID 2548