AlphaFold predicted structure
PCBD1 · P61457
Mean pLDDT
96.3/ 100
Very high
104 residues
Confidence breakdown
- Very high(≥ 90)94%
- Confident(70–90)3%
- Low(50–70)2%
- Very low(< 50)1%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PCBD1
Chr 10q22.1pterin-4 alpha-carbinolamine dehydratase 1
- Aliases:
- PCD
- MANE:
- ENST00000299299.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFamilial diabetes
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMonogenic diabetes
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Hyperphenylalaninemia
0.77pterin-4 alpha-carbinolamine dehydratase 1 deficiency
0.76Dehydratase deficiency
0.62type 2 diabetes mellitus
0.46diabetes mellitus
0.34neuroendocrine neoplasm
0.24ovarian neoplasm
0.24placenta praevia
0.23amyotrophic lateral sclerosis
0.22digestive system disorder
0.21
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Pterin-4-alpha-carbinolamine dehydratase
Involved in tetrahydrobiopterin biosynthesis (By similarity). Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription (By similarity). Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity (By similarity). Also acts as a coactivator for HNF1B-dependent transcription (PubMed:24204001)