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

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:8646
Entrez Gene 5092
PubMed articles PCBD1
OMIM - Gene 126090
OMIM - Diseases Hyperphenylalaninemia, bh4-deficient, d


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022327 10 transcript variant 1 NM_000281.2 NP_000272.1 38