PCBD1 Chromosome 10
Pterin-4 alpha-carbinolamine dehydratase 1
Upload your DNA to see your personal genotypes for variants in PCBD1.
What This Gene Does
This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Associated Conditions (1)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Key Variants
RS1045944675
Conflicting classifications of pathogenicity
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS770334825
Conflicting classifications of pathogenicity
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS773744136
Conflicting classifications of pathogenicity
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS778214598
Conflicting classifications of pathogenicity
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS104894177
Likely pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS1218193751
Likely pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS2492830006
Likely pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS2492833589
Likely pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS1589483932
Pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS2492832243
Pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS2492833598
Pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
RS397518414
Pathogenic
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1045944675 | Health Risk | Conflicting classifications of pathogenicity | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS770334825 | Health Risk | Conflicting classifications of pathogenicity | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS773744136 | Health Risk | Conflicting classifications of pathogenicity | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS778214598 | Health Risk | Conflicting classifications of pathogenicity | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS104894177 | Health Risk | Likely pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS1218193751 | Health Risk | Likely pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS2492830006 | Health Risk | Likely pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS2492833589 | Health Risk | Likely pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS1589483932 | Health Risk | Pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS2492832243 | Health Risk | Pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS2492833598 | Health Risk | Pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS397518414 | Health Risk | Pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS769110552 | Health Risk | Pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS104894172 | Health Risk | Pathogenic/Likely pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS121913015 | Health Risk | Pathogenic/Likely pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |
| RS397518416 | Health Risk | Pathogenic/Likely pathogenic | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency |