loading...| Preferred Name | GAA protein, human | |
| Synonyms |
lysosomal alpha-glucosidase, human glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II), human alglucosidase alfa recombinant human acid alpha-glucosidase acid alpha-glucosidase, human acid maltase, human Myozyme rhGAA avlglucosidase alfa LYAG protein, human Nexviazyme |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C509951 |
|
| altLabel |
lysosomal alpha-glucosidase, human glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II), human alglucosidase alfa recombinant human acid alpha-glucosidase acid alpha-glucosidase, human acid maltase, human Myozyme rhGAA avlglucosidase alfa LYAG protein, human Nexviazyme |
|
| cui |
C1695579 C5691253 C5550570 C1721422 C1703294 |
|
| HM |
D000520 |
|
| II |
D006009 |
|
| Inverse of RB |
DTI67O9503 EC 3.2.1.20 0 |
|
| LT |
TRD |
|
| Mapped to | ||
| MDA |
20060501 |
|
| MeSH Frequency |
336 |
|
| MMR |
20220512 |
|
| notation |
C509951 |
|
| prefLabel |
GAA protein, human |
|
| RR |
DTI67O9503 |
|
| SC |
1 |
|
| Scope Statement |
Defects in the gene for this protein cause glycogen storage disease II, also known as Pompe disease, RefSeq NM_000152 |
|
| TERMUI |
T001120481 T672923 T672921 T001120480 T672924 T672922 T672915 T672925 T672917 T672920 T672916 T672918 |
|
| TH |
INN (2006) FDA SRS (2017) NLM (2022) USAN (19XX) NLM (2006) |
|
| tui |
T116 T126 T121 |