Description
Product Characteristics:
HGD is a 445 amino acid protein that belongs to the homogentisate dioxygenase family and is involved in the pathway of amino acid degradation. Expressed at high levels in kidney, colon, liver, prostate and small intestine, HGD uses iron as a cofactor to catalyze the oxygen-dependent conversion of homogentisate to 4-maleylacetoacetate, a reaction that is the fourth step in the creation of L-phenylalanine from fumarate and acetoacetic acid. Defects in the gene encoding HGD are the cause of alkaptonuria (AKU), an autosomal recessive disorder that is characterized by urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues and spine arthritis.
Subcellular location: Cytoplasm
Synonyms: 2-dioxygenase, AKU, FLJ94126, hgd, HGD_HUMAN, HGO, Homogentisate 1 2 dioxygenase, Homogentisate 1, Homogentisate oxidase, Homogentisate oxygenase, Homogentisic acid oxidase, Homogentisicase.
Target Information: 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]