Pterin-4-alpha-carbinolamine dehydratase is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''PCBD1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).
Clinical significance
Mutations of the PCBD1 gene cause
pterin-4 alpha-carbinolamine dehydratase deficiency, one of the forms of
tetrahydrobiopterin deficiency
Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained normally through the diet, but can be harmful if excess levels build up, causing in ...
.
Interactions
PCBD1 has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
DYRK1B
Dual specificity tyrosine-phosphorylation-regulated kinase 1B is an enzyme that in humans is encoded by the ''DYRK1B'' gene.
Function
DYRK1B is a member of the DYRK family of protein kinases. DYRK1B contains a bipartite nuclear localization s ...
and
HNF1A
HNF1 homeobox A (hepatocyte nuclear factor 1 homeobox A), also known as HNF1A, is a human gene on chromosome 12. It is ubiquitously expressed in many tissues and cell types. The protein encoded by this gene is a transcription factor that is highl ...
.
References
Further reading
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