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FAH

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For Research Use Only. Not For Clinical Use.


This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Proximal tubular cells, Hepatocytes)

Immune cell specificity

Immune cell enhanced (basophil)

Cell line specificity

Cell line enhanced (HHSteC)

Interaction

Homodimer.

Molecular function

Hydrolase

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