gene

PAH

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about PAH: 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.

206Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

0Experiments

0Debates

Summary

PAH is a gene implicated in neurodegeneration research. Key relationships include: associated with, activates, regulates. Associated with ALS, Aging, Als. Connected to 139 entities in the SciDEX knowledge graph.

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🧬 Gene Info

Gene Symbol	PAH
Chromosome	12q23.2
Protein Type	Gene
Function	PAH catalyzes the hydroxylation of phenylalanine to tyrosine
Primary Expression	the liver but is also expressed in the kidney and brain
Amino Acids	527 aa
Pathways	Apoptosis
GeneCards	PAH
Human Protein Atlas	PAH
Gene	PAH (chromosome 12q23.2)
Protein Class	BH4-dependent aromatic amino acid monooxygenase
Protein Size	527 amino acids
Primary Localization	Cytoplasm (primarily liver)
Cofactor Requirement	Tetrahydrobiopterin (BH4), iron
Disease Associations	Phenylketonuria (PKU), hyperphenylalaninemia, variant forms
Associated Diseases	Aging, Als, Alzheimer, Atherosclerosis, Autism
Interactions	ABCC8, AND, APAF1, APOPTOSIS, CALR, CANCER
KG Connections	206 knowledge graph edges
Databases	GeneCards UniProt NCBI Gene HPA STRING

Wiki Pages (3)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    PAH["PAH"]
    PAH -->|"target for"| Cardiovascular["Cardiovascular"]
    PAH -->|"activates"| Als["Als"]
    PAH -->|"target for"| Ms["Ms"]
    PAH -->|"activates"| Heart_Failure["Heart Failure"]
    PAH -->|"expressed in"| Fibrosis["Fibrosis"]
    PAH -->|"target for"| Cancer["Cancer"]
    PAH -->|"expressed in"| Hypertension["Hypertension"]
    PAH -->|"expressed in"| Inflammation["Inflammation"]
    PAH -->|"target for"| Tumor["Tumor"]
    VASCULAR_REMODELING["VASCULAR_REMODELING"] -->|"causes"| PAH
    KCNK2["KCNK2"] -->|"regulates"| PAH
    KCNK1["KCNK1"] -->|"regulates"| PAH
    KCNK3["KCNK3"] -->|"regulates"| PAH
    KCNK6["KCNK6"] -->|"regulates"| PAH
    PI3K["PI3K"] -->|"target for"| PAH
    OVERVIEW["OVERVIEW"] -->|"target for"| PAH
    LDLR["LDLR"] -->|"activates"| PAH
    INFLAMMATION["INFLAMMATION"] -->|"regulates"| PAH

Outgoing (135)

Target	Relation	Type	Str
Hypertension	associated_with	disease	0.95
Inflammation	activates	disease	0.75
endothelial cells	expressed_in	cell_type	0.70
Lipid Metabolism	activates	pathway	0.70
Cystic Fibrosis	associated_with	disease	0.65
Senescence	regulates	disease	0.65
Necroptosis	activates	disease	0.65
Tumor	associated_with	disease	0.65
Als	associated_with	disease	0.65
Cardiovascular	associated_with	disease	0.65
Carcinoma	associated_with	disease	0.65
Asthma	regulates	disease	0.65
ALS	causes	disease	0.65
Necroptosis	regulates	disease	0.65
Neuroinflammation	activates	disease	0.65
Hepatitis	associated_with	disease	0.65
Tumor	therapeutic_target	disease	0.65
Ms	activates	disease	0.65
Ftd	associated_with	disease	0.65
Fibrosis	associated_with	disease	0.65
Inflammation	regulates	disease	0.65
ALS	activates	disease	0.65
Autism	associated_with	disease	0.65
Alzheimer	associated_with	disease	0.65
Infection	regulates	disease	0.65
Copd	associated_with	disease	0.65
Pulmonary Fibrosis	associated_with	disease	0.65
Cancer	activates	disease	0.65
Pyroptosis	regulates	disease	0.65
Ferroptosis	regulates	disease	0.65
Amyotrophic Lateral Sclerosis	activates	disease	0.65
Hypertension	expressed_in	disease	0.65
Als	therapeutic_target	disease	0.65
Neurodegeneration	activates	disease	0.65
Inflammation	expressed_in	disease	0.65
Cancer	associated_with	disease	0.65
Neurodegeneration	associated_with	disease	0.65
Cardiovascular	therapeutic_target	disease	0.65
Als	activates	disease	0.65
Aging	associated_with	disease	0.65
Alzheimer	activates	disease	0.65
Atherosclerosis	associated_with	disease	0.65
Stroke	associated_with	disease	0.65
Ms	therapeutic_target	disease	0.65
Heart Failure	activates	disease	0.65
Ms	associated_with	disease	0.65
Schizophrenia	associated_with	disease	0.65
Fibrosis	expressed_in	disease	0.65
Cancer	therapeutic_target	disease	0.65
Obesity	associated_with	disease	0.65

Incoming (71)

Source	Relation	Type	Str
VASCULAR_REMODELING	causes	phenotype	0.72
RIPK1	activates	gene	0.60
TNFSF10	activates	gene	0.60
CMKLR1	expressed_in	gene	0.60
CMKLR1	activates	gene	0.60
ABCC8	interacts_with	gene	0.60
KLK1	interacts_with	gene	0.60
ATG	associated_with	gene	0.60
INFLAMMATION	regulates	gene	0.60
AUTOPHAGY	associated_with	gene	0.60
INFLAMMATION	expressed_in	gene	0.60
CANCER	therapeutic_target	gene	0.60
LDL	activates	gene	0.60
STROKE	associated_with	gene	0.60
AGING	associated_with	gene	0.60
GENES	associated_with	gene	0.60
GENETIC MODIFIERS	associated_with	gene	0.60
CANCER	associated_with	gene	0.60
MITOCHONDRIAL DNA	associated_with	gene	0.60
ALZHEIMER	associated_with	gene	0.60
COMPLEMENT	activates	gene	0.60
CYTOKINES	activates	gene	0.60
FERROPTOSIS	associated_with	gene	0.60
INFLAMMATION	activates	gene	0.60
PROINFLAMMATORY CYTOKINES	activates	gene	0.60
NEURODEGENERATION	associated_with	gene	0.60
AND	causes	gene	0.60
DNA	causes	gene	0.60
APOER2	associated_with	gene	0.60
DNA	therapeutic_target	gene	0.60
APOPTOSIS	regulates	gene	0.60
PYROPTOSIS	regulates	gene	0.60
WNT	activates	gene	0.60
KLF2	interacts_with	gene	0.60
DNA	associated_with	gene	0.60
LDLR	associated_with	entity	0.60
OVERVIEW	therapeutic_target	gene	0.60
LDLR	activates	gene	0.60
MTOR	associated_with	gene	0.60
TGFB1	associated_with	gene	0.60
TNF	associated_with	gene	0.60
CFTR	associated_with	gene	0.60
PTEN	expressed_in	gene	0.60
REELIN	associated_with	gene	0.60
EPAS1	associated_with	gene	0.60
MYC	associated_with	gene	0.60
SCN5A	associated_with	gene	0.60
CALR	activates	gene	0.60
LRP8	associated_with	gene	0.60
LRP5	associated_with	gene	0.60

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

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning PAH in their description or question text

No additional research found

PAH