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PAH

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria.
PAH
Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins

Predicted location

Intracellular

Single cell type specificity

Group enriched (Hepatocytes, Proximal tubular cells, Cholangiocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (Hep G2)

Interaction

Homodimer and homotetramer.

Molecular function

Allosteric enzyme, Monooxygenase, Oxidoreductase

More Types Infomation

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