background:
This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Function:
Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-SH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.
Subcellular Location:
Cytoplasm. Nucleus. Cytoplasmic and/or nuclear.
DISEASE:
Defects in PCBD1 are the cause of SH4-deficient hyperphenylalaninemia type D (HPASH4D) [MIM:212870]; also known as hyperphenylalaninemia with primapterinuria. HPASH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients.
Similarity:
Belongs to the pterin-4-alpha-carbinolamine dehydratase family.
Database links:
Entrez Gene: 395729 Chicken
Entrez Gene: 5092 Human
Entrez Gene: 1336 Mouse
Entrez Gene: 29700 Rat
Omim: 126090 Human
SwissProt: P61457 Human
SwissProt: P61458 Mouse
SwissProt: P61459 Rat
Unigene: 3192 Human
Unigene: 39473 Mouse
Unigene: 8236 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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