The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 50 kDa (predicted molecular weight: 50 kDa).
Tissue specificityHighest expression in the prostate, small intestine, colon, kidney and liver.
PathwayAmino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs to the homogentisate dioxygenase family.