功能： catalytic activity:Homogentisate + O(2) = 4-maleylacetoacetate.,cofactor:Iron.,disease:Defects in HGD are the cause of alkaptonuria (AKU) [MIM:203500]. AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.,pathway:Amino-acid degradation; L-phenylalanine degradation; acetoacetic acid and fumarate from L-phenylalanine: step 4/6.,similarity:Belongs to the homogentisate dioxygenase family.,tissue specificity:Highest expression in the prostate, small intestine, colon, kidney and liver.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytosol,extracellular exosome,
组织表达： Highest expression in the prostate, small intestine, colon, kidney and liver.
功能： catalytic activity:Homogentisate + O(2) = 4-maleylacetoacetate.,cofactor:Iron.,disease:Defects in HGD are the cause of alkaptonuria (AKU) [MIM:203500]. AKU is an autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.,pathway:Amino-acid degradation; L-phenylalanine degradation; acetoacetic acid and fumarate from L-phenylalanine: step 4/6.,similarity:Belongs to the homogentisate dioxygenase family.,tissue specificity:Highest expression in the prostate, small intestine, colon, kidney and liver.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytosol,extracellular exosome,
组织表达： Highest expression in the prostate, small intestine, colon, kidney and liver.
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