The protein encoded by this gene is proteolytically processed to release a peptide that inhibits pancreatic secretion and mobility in the gut. Rare variations in this gene could increase susceptibility to obesity.
A synthesized peptide derived from human PZR, corresponding to a region within C-terminal amino acids.
This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase.
A synthesized peptide derived from human QIK/QSK, corresponding to a region within the internal amino acids.
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