Homo sapiens alpha glucosidase (GAA), transcript variant 2, mRNA

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Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability. [Cell. 2023]
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, et al. Cell. 2023 Oct 26; 186(22):4898-4919.e25. Epub 2023 Oct 11.
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. [Orphanet J Rare Dis. 2023]
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH. Orphanet J Rare Dis. 2023 Aug 4; 18(1):231. Epub 2023 Aug 4.
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B). [Mov Disord. 2023]
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, et al. Mov Disord. 2023 Oct; 38(10):1950-1956. Epub 2023 Jul 20.

RefSeq alternative splicing
See 7 reference mRNA sequence splice variants for the GAA gene.
RefSeq protein product
See the reference protein sequence for lysosomal alpha-glucosidase preproprotein (NP_001073271.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
BioSystems
BioSystems
CCDS
Link to Consensus CDS
Components (Core)
Links to Core components
Full text in PMC
Free full text articles in PMC
Functional Class
Functional class of the sequence domain architecture
Gene
Link to related Genes
OMIM
OMIM records associated with Nucleotide sequence
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed

Ensembl [Ensembl]
Ensembl
GenScript latest version of gene cDNA ORF Clone [GenScript latest version of g...]
GenScript latest version of gene cDNA ORF Clone
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