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HGD
Anti-HGD Recombinant Antibody Products
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For Research Use Only. Not For Clinical Use.
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
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 (Hepatocytes, Proximal tubular cells, Glandular and luminal cells, Endometrial ciliated cells, Distal tubular cells)
Immune cell specificity
Immune cell enriched (neutrophil)
Cell line specificity
Cell line enhanced (CACO-2, EFO-21, Hep G2, OE19, RPTEC TERT1)
Interaction
Homohexamer arranged as a dimer of trimers.
Molecular function
Dioxygenase, Oxidoreductase
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