Immunogen
Synthesized peptide derived from human HGD AA range: 21-71
Specificity
This antibody detects endogenous levels of HGD at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
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.,
Fields
>>Tyrosine metabolism;>>Metabolic pathways
Human protein sequence Database
Q93099
Mouse protein sequence database
O09173
Rat protein sequence database
Cellular localization
cytosol,extracellular exosome,
Tissue expression
Highest expression in the prostate, small intestine, colon, kidney and liver.