Description
Product Name: | HGD Rabbit mAb |
Product Code: | CAB1400 |
Size: | 20uL, 50uL, 100uL |
Synonyms: | HGD, AKU, HGO, homogentisate 1, 2-dioxygenase |
Applications: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | A synthesized peptide derived from human HGD. |
Applications: | WB |
Recommended Dilutions: | WB 1:500 - 1:2000 |
Reactivity: | Human |
Positive Samples: | HT-29, HepG2 |
Immunogen: | A synthesized peptide derived from human HGD. |
Purification Method: | Affinity purification |
Storage: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | Email for sequence |
Gene ID: | 3081 |
Uniprot: | Q93099 |
Calculated MW: | 48kDa |
Observed MW: | 50KDa |
UniProt Protein Function: | HGD: Defects in HGD are the cause of alkaptonuria (AKU). 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. Belongs to the homogentisate dioxygenase family. |
UniProt Protein Details: | Protein type:Oxidoreductase; EC 1.13.11.5; Amino Acid Metabolism - tyrosine Chromosomal Location of Human Ortholog: 3q13.33 Cellular Component: cytosol Molecular Function:homogentisate 1,2-dioxygenase activity; metal ion binding Biological Process: L-phenylalanine catabolic process; tyrosine catabolic process Disease: Alkaptonuria |
NCBI Summary: | 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] |
UniProt Code: | Q93099 |
NCBI GenInfo Identifier: | 296434531 |
NCBI Gene ID: | 3081 |
NCBI Accession: | Q93099.2 |
UniProt Secondary Accession: | Q93099,A8K417, B2R8Z0, |
UniProt Related Accession: | Q93099 |
Molecular Weight: | 445 |
NCBI Full Name: | Homogentisate 1,2-dioxygenase |
NCBI Synonym Full Names: | homogentisate 1,2-dioxygenase |
NCBI Official Symbol: | HGD |
NCBI Official Synonym Symbols: | AKU; HGO |
NCBI Protein Information: | homogentisate 1,2-dioxygenase; homogentisicase; homogentisate oxidase; homogentisate oxygenase; homogentisic acid oxidase |
UniProt Protein Name: | Homogentisate 1,2-dioxygenase |
UniProt Synonym Protein Names: | Homogentisate oxygenase; Homogentisic acid oxidase; Homogentisicase |
Protein Family: | 2-(hydroxymethyl)glutarate dehydrogenase |
UniProt Gene Name: | HGD |
UniProt Entry Name: | HGD_HUMAN |