产品名称
HGD Rabbit Polyclonal Antibody
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/3081
Human Swissprot No.
Q93099
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q93099/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/15233
Mouse Swissprot No.
O09173
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/O09173
免疫原
Synthesized peptide derived from human HGD AA range: 21-71
特异性
This antibody detects endogenous levels of HGD at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Highest expression in the prostate, small intestine, colon, kidney and liver.
细胞定位
cytosol,extracellular exosome,
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
