gene

GAA

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about GAA: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

74Connections

0Hypotheses

0Analyses

44Outgoing

30Incoming

Summary

GAA Gene

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🧬 Gene Info

Gene Symbol	GAA
Full Name	Acid Alpha-Glucosidase
Chromosome	17q25.2-q25.3
Protein Type	Enzyme
Function	The GAA enzyme (acid alpha-glucosidase, also called acid maltase) is a lysosomal hydrolase that catalyzes the breakdown of glycogen to glucose.
Pathways	Amyloid, Apoptosis, Oxidative Stress, blood-brain barrier
UniProt ID	P10276
NCBI Gene ID	2548
Ensembl ID	ENSG00000171298
OMIM	232300
GeneCards	GAA
Human Protein Atlas	GAA
Associated Diseases	neurodegeneration
Interactions	NRF2, FUS, GABARAPL1, OPTN, APP/PS1, WAS
KG Connections	74 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: GAA — AlphaFold P10276 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    GAA["<b>GAA</b>"]
    Ms{"Ms"}
    GAA -->|"therapeutic target"| Ms
    neurodegeneration["neurodegeneration"]
    GAA -->|"implicated in"| neurodegeneration
    SLC16A1["SLC16A1"]
    SLC16A1 -->|"therapeutic target"| GAA
    RB1["RB1"]
    RB1 -->|"therapeutic target"| GAA
    NOS3["NOS3"]
    NOS3 -->|"therapeutic target"| GAA
    style GAA fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0

Outgoing (44)

Target	Relation	Type	Str
Ms	therapeutic_target	disease	0.65
Ms	inhibits	disease	0.65
Als	activates	disease	0.65
Retinitis Pigmentosa	activates	disease	0.65
Alzheimer	activates	disease	0.65
Ataxia	interacts_with	disease	0.65
ALS	interacts_with	disease	0.65
Diabetes	interacts_with	disease	0.65
Als	therapeutic_target	disease	0.65
Diabetes	therapeutic_target	disease	0.65
Cardiomyopathy	therapeutic_target	disease	0.65
NRF2	activates	gene	0.60
SLC16A1	therapeutic_target	gene	0.60
NOS3	therapeutic_target	gene	0.60
RB1	therapeutic_target	gene	0.60
NOS3	associated_with	gene	0.60
SLC16A1	associated_with	gene	0.60
FXN	causes	gene	0.60
FUS	therapeutic_target	gene	0.60
Rb	therapeutic_target	protein	0.60
NOS3	targets	gene	0.60
RB1	targets	gene	0.60
SLC16A1	targets	gene	0.60
RB1	associated_with	gene	0.60
GABARAPL1	inhibits	gene	0.60
OPTN	inhibits	gene	0.60
Mtor	inhibits	pathway	0.60
Apoptosis	activates	pathway	0.60
APP/PS1	activates	gene	0.60
Amyloid	activates	pathway	0.60
Oxidative Stress	activates	pathway	0.60
Ferroptosis	inhibits	pathway	0.60
AND	associated_with	gene	0.60
AND	interacts_with	gene	0.60
App	therapeutic_target	protein	0.60
Ras	therapeutic_target	protein	0.60
blood-brain barrier	participates_in	pathway	0.60
blood-brain barrier	expressed_in	brain_region	0.60
RNA	activates	gene	0.60
Wnt signaling	participates_in	pathway	0.60
Striatum	expressed_in	brain_region	0.55
Cortex	expressed_in	brain_region	0.55
FUS	interacts_with	gene	0.50
WAS	interacts_with	protein	0.50

Incoming (30)

Source	Relation	Type	Str
SLC16A1	therapeutic_target	gene	0.60
RB1	therapeutic_target	gene	0.60
NOS3	therapeutic_target	gene	0.60
FXN	associated_with	entity	0.60
EGFR	inhibits	gene	0.60
MTOR	inhibits	gene	0.60
GPX4	activates	gene	0.60
SLC7A11	activates	gene	0.60
APP	activates	gene	0.60
FXN	causes	gene	0.60
FUS	therapeutic_target	gene	0.60
RB1	associated_with	gene	0.60
FUS	associated_with	gene	0.60
CHOP	inhibits	gene	0.60
EXOSOMES	inhibits	gene	0.60
AND	inhibits	gene	0.60
APOPTOSIS	activates	gene	0.60
MICROGLIA	activates	gene	0.60
NEURODEGENERATIVE DISEASES	activates	gene	0.60
FERROPTOSIS	inhibits	gene	0.60
OXIDATIVE STRESS	activates	gene	0.60
AMYLOID	activates	gene	0.60
ALZHEIMER	activates	gene	0.60
AND	activates	gene	0.60
MITOCHONDRIAL DYSFUNCTION	activates	gene	0.60
ALZHEIMER'S DISEASE	activates	gene	0.60
AND	interacts_with	gene	0.60
AND	associated_with	gene	0.60
DNA	activates	gene	0.60
FXN	co_discussed	gene	0.50

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

GAA

Understanding Entity Pages

Summary

Wiki Pages (21)

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