gene

PCBD1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about PCBD1: 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.

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Summary

PCBD1 (Pterin-4-Alpha-Carbinolamine Dehydratase) - enzyme involved in tetrahydrobiopterin (BH4) regeneration, dopamine and serotonin synthesis, phenylalanine metabolism, and implicated in Parkinson's disease, Alzheimer's disease, and phenylketonuria through BH4 pathway dysfunction

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🧬 Gene Info

Gene Symbol	PCBD1
Aliases	PCD, DCOH, PTPS
Chromosome	10q22.1
Protein Type	Enzyme
Function	is a key enzyme in the tetrahydrobiopterin (BH4) biosynthesis and regeneration pathway.
Primary Expression	Highest in liver, brain (cortex, cerebellum)
Molecular Weight	~11.5 kDa
Amino Acids	103 aa
UniProt ID	Q9Y5Q1
NCBI Gene ID	51133
Ensembl ID	ENSG00000156030
OMIM	264070
GeneCards	PCBD1
Human Protein Atlas	PCBD1
Gene Name	Pterin-4-Alpha-Carbinolamine Dehydratase
Associated Diseases	neurodegeneration
Databases	GeneCards HPA STRING

🔮 Predicted Structure: PCBD1 — AlphaFold Q9Y5Q1 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (7)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    PCBD1["<b>PCBD1</b>"]
    neurodegeneration["neurodegeneration"]
    PCBD1 -->|"implicated in"| neurodegeneration
    Alzheimer_S_Disease{"Alzheimer'S Disease"}
    PCBD1 -->|"implicated in"| Alzheimer_S_Disease
    Parkinson_S_Disease{"Parkinson'S Disease"}
    PCBD1 -->|"implicated in"| Parkinson_S_Disease
    DOPAMINE["DOPAMINE"]
    PCBD1 ---|"interacts"| DOPAMINE
    SEROTONIN["SEROTONIN"]
    PCBD1 ---|"interacts"| SEROTONIN
    style PCBD1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#fff
    style Alzheimer_S_Disease fill:#4a1a1a,stroke:#ef5350,stroke-width:1px,color:#ef5350
    style Parkinson_S_Disease fill:#4a1a1a,stroke:#ef5350,stroke-width:1px,color:#ef5350

Outgoing (0)

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Incoming (0)

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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

PCBD1

Understanding Entity Pages

Summary

Wiki Pages (7)

PCBD1 Gene (Pterin-4-Alpha-Carbinolamine Dehydratase)

GCH1 Protein

Dopamine Neurons in Dopamine-Responsive Dystonia

GCH1 Gene

Sepiapterin Reductase (SPR)