gene 1,525 words KG: PCBD1 2026-03-26
kind:genesection:genesstate:published
Contents

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

🧬 Gene Info
Gene SymbolPCBD1
AliasesPCD, DCOH, PTPS
Chromosome10q22.1
Protein TypeEnzyme
Functionis a key enzyme in the tetrahydrobiopterin (BH4) biosynthesis and regeneration pathway.
Primary ExpressionHighest in liver, brain (cortex, cerebellum)
Molecular Weight~11.5 kDa
Amino Acids103 aa
UniProt IDQ9Y5Q1
NCBI Gene ID51133
Ensembl IDENSG00000156030
OMIM264070
GeneCardsPCBD1
Human Protein AtlasPCBD1
Gene NamePterin-4-Alpha-Carbinolamine Dehydratase
Associated Diseasesneurodegeneration
DatabasesGeneCardsHPASTRING

Knowledge Graph