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Metazoan complexes |
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H.sapiens
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Details of GAA gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GAA | --- | P10253 | LYAG_HUMAN | 2548 | ENSG00000171298 | Lysosomal alpha-glucosidase 76 kDa lysosomal alpha-glucosidase 70 kDa lysosomal alpha-glucosidase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Glycogen storage disease 2 (GSD2) [MIM:232300]: A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 232300 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Gaa | --- | aagr-1... | SPU_028178 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| LDHA | GAA | 0.078717946 | LDHA | GAA |
| ATPIF1 | GAA | 0.091650337 | ATPIF1 | GAA |
| MRPL9 | GAA | 0.075492827 | MRPL9 | GAA |
| GAA | PMPCA | 0.075558584 | GAA | PMPCA |
| UQCRFS1 | GAA | 0.089866653 | UQCRFS1 | GAA |
| HSPA9 | GAA | 0.082417171 | HSPA9 | GAA |
| GAA | GOT1 | 0.079918928 | GAA | GOT1 |
| LDHB | GAA | 0.090410099 | LDHB | GAA |
| GAA | ESD | 0.096733552 | GAA | ESD |
| CHID1 | GAA | 0.085214249 | CHID1 | GAA |