Also known as LYAG, glucosidase alpha, acid, alpha glucosidase
protein-coding gene in the species Homo sapiens
In the Vinony graph
Vinony's link graph records 339 inbound references to GAA, and connects out to PubMed, Ensembl genome database project and enzyme.
It is catalogued under the topic Genes on human chromosome 17.
Vinony links it to 7 Wikipedia language editions.
Gene data
GAA- Name
- alpha glucosidase
- Type
- protein-coding
- Position
- 80,101,526–80,119,881 (+)
- Aliases
- IOPD, LOPD, LYAG
- Ensembl
- ENSG00000171298
- RefSeq RNA
- NM_000152.5, NM_001079803.3, NM_001079804.3, NM_001406741.1, NM_001406742.1
- RefSeq protein
- NP_000143.2, NP_001073271.1, NP_001073272.1, NP_001393670.1, NP_001393671.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
alpha glucosidase
- Symbol
- GAA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:80,101,526-80,119,881
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 37268
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2548
- genomic end
- 80119881
- genomic start
- 78075355
- chromosome
- human chromosome 17
- cytogenetic location
- 17q25.3
- genetic association
- glycogen storage disease II
Sources (7)
via Wikidata · CC0