PCBD2: Pterin-4 Alpha-Carbinolamine Dehydratase 2
A gene encoding a cofactor for phenylalanine hydroxylase, involved in tetrahydrobiopterin metabolism and associated with hyperphenylalaninemia.
Gene Information Card
| Symbol | PCBD2 |
|---|---|
| Full Name | Pterin-4 Alpha-Carbinolamine Dehydratase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 84109 ncbi.nlm.nih.gov/gene/84109 |
| Ensembl ID | ENSG00000113578 |
| UniProt ID | Q9H0N5 |
| OMIM ID | 609786 |
| HGNC ID | 30123 |
| Aliases | DCOH2, PHS2, PCD2 |
Description
PCBD2 (Pterin-4 Alpha-Carbinolamine Dehydratase 2) encodes a protein that functions as a cofactor for phenylalanine hydroxylase, catalyzing the dehydration of 4a-carbinolamine to quinonoid dihydrobiopterin, a key step in tetrahydrobiopterin (BH4) regeneration. BH4 is an essential cofactor for aromatic amino acid hydroxylases and nitric oxide synthases. Mutations in PCBD2 can lead to BH4 deficiency and hyperphenylalaninemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperphenylalaninemia, BH4-deficient, DCoH deficiency | Loss of PCBD2 function impairs BH4 regeneration, reducing phenylalanine hydroxylase activity and causing phenylalanine accumulation. | OMIM #264070; ClinVar reports pathogenic variants in PCBD2 associated with BH4 deficiency. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line; high expression |
| HEK293 | 9.8 | Embryonic kidney cells; moderate expression |
| SH-SY5Y | 5.4 | Neuroblastoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | Rare | Reduced enzyme activity; associated with BH4 deficiency |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish PCBD2 enzymatic activity, impairing BH4 regeneration.
Gain of Function (GOF)
No gain-of-function mutations reported for PCBD2.
Dominant Negative (DN)
No dominant-negative mutations reported for PCBD2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Tetrahydrobiopterin (BH4) metabolism
• Phenylalanine and tyrosine metabolism (KEGG: hsa00360)
Protein Summary
PCBD2 encodes a 104-amino acid protein (UniProt Q9H0N5) that belongs to the pterin-4 alpha-carbinolamine dehydratase family. It forms homotetramers and catalyzes the conversion of 4a-carbinolamine to quinonoid dihydrobiopterin, essential for recycling BH4. The protein is predominantly expressed in liver and kidney, with lower levels in brain and heart. Defects in PCBD2 cause autosomal recessive BH4-deficient hyperphenylalaninemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCBD2 Knockout HEK293 Cell Line | EDJ-KQ9984 | Human | 84105 | Details Get a Quote |
| PCBD2 Knockout A-549 Cell Line | EDJ-KQ36927 | Human | 84105 | Details Get a Quote |
| PCBD2 Knockout HCT 116 Cell Line | EDJ-KQ36928 | Human | 84105 | Details Get a Quote |
| PCBD2 Knockout HeLa Cell Line | EDJ-KQ36929 | Human | 84105 | Details Get a Quote |
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