PCBD1

This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. A deficiency of this enzyme leads to hyperphenylalaninemia. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1). [provided by RefSeq]

Full Name

pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha

Function

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).

Biological Process

Tetrahydrobiopterin biosynthetic processIEA:UniProtKB-KW

Cellular Location

Cytoplasm
Nucleus
Recruited to the nucleus through the interaction with HNF1B.

Involvement in disease

Hyperphenylalaninemia, BH4-deficient, D (HPABH4D):
An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor.