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Mouse Anti-HGD (AA 377-445) Recombinant Antibody (CBFYH-1010) (CBMAB-H1951-FY)

This product is mouse antibody that recognizes HGD. The antibody CBFYH-1010 can be used for immunoassay techniques such as: ELISA, IF, IP.
See all HGD antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYH-1010
Antibody Isotype
IgG2b, κ
Application
ELISA, IF, IP

Basic Information

Immunogen
HGD AA 377-445 partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2b, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format
Liquid
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 377-445

Target

Full Name
homogentisate 1,2-dioxygenase (homogentisate oxidase)
Introduction
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.
Entrez Gene ID
UniProt ID
Alternative Names
Homogentisate 1,2-Dioxygenase; Homogentisic Acid Oxidase; Homogentisate Oxygenase; Homogentisate Oxidase; Homogentisicase; EC 1.13.11.5; HGO; Homogentisate 1,2-Dioxygenase (Homogentisate Oxidase); AKU
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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