full name
pterin-4 alpha-carbinolamine dehydratase 1

synonyms
DCOH, PCBD, PCD, PHS, PCBD1, ENSG00000166228

HGNC
HGNC:8646

Entrez Gene
Gene:5092

ENSEMBL
ENSG00000166228

location
chr: 10
start: 72642037
stop: 72648541
strand: -

OMIM
OMIM:126090: PCBD1 (Autosomal recessive inheritance)
OMIM:264070: Hyperphenylalaninemia, BH4-deficient, D

transcripts
NM_000281.2

pathways
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism [NCBI:1309221] [REACTOME:R-HSA-6788656]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Phenylalanine and tyrosine catabolism [NCBI:1270164] [REACTOME:R-HSA-71182]