Rabbit Anti-HGD Recombinant Antibody (
20D12) (V2LY-0725-LY1335)

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Tested Data
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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal
Rabbit
Clone
20D12
Application
ELISA, IHC
Immunogen
A synthesized peptide.
Host Species
Rabbit
Specificity
Human
Antibody Isotype
IgG
Clonality
Monoclonal Antibody
Application Notes
ApplicationNote
IHC1:50-1:200

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, glycerol
Preservative
Sodium azide
Concentration
Batch dependent
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.
More Infomation

Target

Full Name
homogentisate 1,2-dioxygenase (homogentisate oxidase)
Entrez Gene ID
UniProt ID
Biological Process
L-phenylalanine catabolic process Source: GO_Central
Tyrosine catabolic process Source: ProtInc
Cellular Location
Cytosol; Extracellular exosome
Involvement in disease
Alkaptonuria (AKU):
An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.

Bernini, A., Spiga, O., & Santucci, A. (2023). Structure-Function Relationship of Homogentisate 1, 2-dioxygenase: Understanding the Genotype-Phenotype correlations in the Rare Genetic Disease Alkaptonuria. Current Protein & Peptide Science.

Lequeue, S., Neuckermans, J., Nulmans, I., Schwaneberg, U., Vanhaecke, T., & De Kock, J. (2022). A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1, 2-dioxygenase in the context of alkaptonuria. Scientific Reports, 12(1), 19452.

Tao, L., Deng, C., Ma, M., Zhang, Y., Duan, J., Li, Y., ... & Li, L. (2022). A novel mutation in the homogentisate 1, 2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. Clinica Chimica Acta, 532, 164-171.

Nagalakshmi, V., Lavanya, J., Bhavya, B., Riya, V., Venugopal, B., & Ramesh, A. S. (2022). In-silico profiling of deleterious non synonymous SNPs of homogentisate 1, 2 dioxygenase (HGD) gene for early diagnosis of “Alkaptonuria”. Research Journal of Pharmacy and Technology, 15(9), 3898-3904.

Wilson, P. J., Ranganath, L. R., Bou‐Gharios, G., Gallagher, J. A., & Hughes, J. H. (2021). Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1, 2‐dioxygenase deficiency in the liver is responsible for homogentisic acid‐derived ochronotic pigmentation. JIMD reports, 58(1), 52-60.

Danda, S., Mohan, S., Devaraj, P., Dutta, A. K., Nampoothiri, S., Yesodharan, D., ... & Jebaraj, I. (2020). Founder effects of the homogentisate 1, 2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. Clinical Rheumatology, 39, 2743-2749.

Bernini, A., Galderisi, S., Spiga, O., Amarabom, C. O., & Santucci, A. (2020). Transient pockets as mediators of gas molecules routes inside proteins: The case study of dioxygen pathway in homogentisate 1, 2-dioxygenase and its implication in Alkaptonuria development. Computational biology and chemistry, 88, 107356.

Ascher, D. B., Spiga, O., Sekelska, M., Pires, D. E., Bernini, A., Tiezzi, M., ... & Zatkova, A. (2019). Homogentisate 1, 2-dioxygenase (HGD) gene variants, their analysis and genotype–phenotype correlations in the largest cohort of patients with AKU. European Journal of Human Genetics, 27(6), 888-902.

Hughes, J. H., Liu, K., Plagge, A., Wilson, P. J., Sutherland, H., Norman, B. P., ... & Bou-Gharios, G. (2019). Conditional targeting in mice reveals that hepatic homogentisate 1, 2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. Human molecular genetics, 28(23), 3928-3939.

Karmakar, M., Cicaloni, V., Rodrigues, C. H., Spiga, O., Santucci, A., & Ascher, D. B. (2021). HGDiscovery: an online tool providing functional and phenotypic information on novel variants of homogentisate 1, 2-dioxigenase. bioRxiv, 2021-04.

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For research use only. Not intended for any clinical use.

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