The PCBD1 gene homepage
| General information |
| Gene symbol |
PCBD1 |
| Gene name |
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha |
| Chromosome |
10 |
| Chromosomal band |
q22 |
| Imprinted |
Unknown |
| Genomic reference |
NG_008646.1 |
| Transcript reference |
NM_000281.2 |
| Associated with diseases |
Hyperphenylalaninemia, bh4-deficient, d |
| Citation reference(s) |
- |
| Curators (1) |
Johan T. den Dunnen |
| Total number of public variants reported |
38 |
| Unique public DNA variants reported |
2 |
| Individuals with public variants |
34 |
| Hidden variants |
2 |
| Date created |
November 30, -0001 |
| Date last updated |
September 28, 2016 |
| Version |
PCBD1:160928 |
Active transcripts
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