Gene Information

Gene Information
Gene Name	GAA
Organism	Homo sapiens (Human)
Gene Length	952
Protein Names	Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid maltase) (Aglucosidase alfa) [Cleaved into: 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase]
Target Name	lysosomal alpha-glucosidase
Target Type	Clinical trial target
Gene Age	987 ( ENSG00000171298 )
Evolutionary Stage	Eukaryota
AlphaFoldDB	P10253
Gene Card	GAA
Uniprot ID	P10253
Pfam	PF13802; PF01055; PF16863; PF00088
In ASD	yes
Allosteric Prediction	yes (1.000340652)
Ortholog in Animals	Alpaca_ GAA ( ortholog_one2one ) Dog_ GAA ( ortholog_one2one ) GuineaPig_ GAA ( ortholog_one2one ) Macaque_ GAA ( ortholog_one2one ) Mouse_ Gaa ( ortholog_one2one ) Pig_ GAA ( ortholog_one2one ) Rat_ Gaa ( ortholog_one2one )
Ohnologs	NA
Paralogs	MYORG, GANC, MGAM2, GANAB, MGAM, SI
Tissue	NA
Tissue Specificity	NA
Pharmacological Animal Models	NA
Gene Ontology (biological process)
Gene Ontology (cellular component)
Gene Ontology (molecular function)
PDB	5KZW (X-ray 2.00A ) 5KZX (X-ray 2.00A ) 5NN3 (X-ray 1.90A ) 5NN4 (X-ray 1.83A ) 5NN5 (X-ray 2.00A ) 5NN6 (X-ray 2.00A ) 5NN8 (X-ray 2.45A ) 7P2Z (X-ray 1.85A ) 7P32 (X-ray 1.82A )
DBSNP	rs777215354 rs764797280 rs200586324 rs1800299 rs398123174 rs528367092 rs1042393 rs370950728 rs530478036 rs374569672 rs1042395 rs200210219 rs200210219 rs757700700 rs121907944 rs200856561 rs577915581 rs201896815 rs1555599667 rs764622267 rs886042086 rs552929702 rs773417785 rs1057516600 rs121907945 rs121907940 rs543300039 rs763091901 rs121907936 rs750030887 rs730880022 rs202095215 rs766074609 rs755253527 rs142752477 rs752002666 rs778634337 rs776008078 rs141533320 rs560575383 rs770610356 rs150868652 rs1358826817 rs778068209 rs772883420 rs398123169 rs786204720 rs121907937 rs1057517146 rs892129065 rs121907941 rs121907942 rs779556619 rs747150965 rs765362308 rs772962666 rs1800307 rs991082382 rs747373179 rs775450536 rs775450536 rs753505203 rs764670084 rs377544304 rs374470794 rs781484283 rs1393386120 rs1057517105 rs768397968 rs369531647 rs549029029 rs914396317 rs746961289 rs1414146587 rs757617999 rs1420043899 rs28937909 rs28940868 rs368438393 rs368438393 rs776948121 rs1448515860 rs536906561 rs374143224 rs778418246 rs757111744 rs1800309 rs786204645 rs398123172 rs759292700 rs141017311 rs121907938 rs1381005435 rs1800312 rs1479740763 rs752921215 rs144016984 rs1126690 rs1800314 rs1480070037 rs1221948995 rs1800315 rs1245412108
Subcellular location [CC]	Lysosome {ECO:0000269\|PubMed:17897319}. Lysosome membrane {ECO:0000269\|PubMed:17897319}.
Mouse PG classification	NA
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