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Mouse Anti-ITPA Recombinant Antibody (2H8) (CBMAB-A4595-LY)

The product is antibody recognizes ITPA. The antibody 2H8 immunoassay techniques such as: sELISA, ELISA.
See all ITPA antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
2H8
Antibody Isotype
IgG2a, κ
Application
sELISA, ELISA

Basic Information

Immunogen
ITPA (NP_258412.1, 89 a.a. ~ 193 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2a, 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
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.

Target

Full Name
inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Introduction
The protein encoded by this gene hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. The encoded protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency. Two transcript variants encoding two different isoforms have been found for this gene. Also, at least two other transcript variants have been identified which are probably regulatory rather than protein-coding. [provided by RefSeq]
Entrez Gene ID
3704
UniProt ID
Q9BY32
Alternative Names
C20orf37; HLC14-06-P; ITPase; dJ794I6.3
Function
Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions.
Biological Process
Chromosome organizationIEA:Ensembl
Deoxyribonucleoside triphosphate catabolic processIEA:UniProtKB-UniRule
ITP catabolic processIEA:Ensembl
Nucleoside triphosphate catabolic processManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cytoplasm
Involvement in disease
Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD):
A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs.
Developmental and epileptic encephalopathy 35 (DEE35):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood.

Straube, H., Straube, J., Rinne, J., Fischer, L., Niehaus, M., Witte, C. P., & Herde, M. (2023). An inosine triphosphate pyrophosphatase safeguards plant nucleic acids from aberrant purine nucleotides. New Phytologist, 237(5), 1759-1775.

Schroader, J. H., Handley, M. T., & Reddy, K. (2023). Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function. Wiley Interdisciplinary Reviews: RNA, e1790.

Zamzami, M. A. (2022). Inosine triphosphate pyrophosphatase (ITPase): Functions, mutations, polymorphisms and its impact on cancer therapies. Cells, 11(3), 384.

Vidal, A. E., Yagüe-Capilla, M., Martínez-Arribas, B., García-Caballero, D., Ruiz-Pérez, L. M., & González-Pacanowska, D. (2022). Inosine triphosphate pyrophosphatase from Trypanosoma brucei cleanses cytosolic pools from deaminated nucleotides. Scientific Reports, 12(1), 6408.

Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., ... & Houlden, H. (2022). Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, 43(3), 403-419.

Zamzami, M. A. (2022). Inosine triphosphate pyrophosphatase (ITPase): Functions, mutations, polymorphisms and its impact on cancer therapies. Cells. 2022; 11: 384.

Houndonougbo, Y., Pugh, B., VanWormer, K., April, C., & Burgis, N. (2021). Structural dynamics of inosine triphosphate pyrophosphatase (ITPA) protein and two clinically relevant mutants: molecular dynamics simulations. Journal of Biomolecular Structure and Dynamics, 39(4), 1236-1247.

Peltenburg, N. C., Bierau, J., Bakker, J. A., Schippers, J. A., Lowe, S. H., Paulussen, A. D., ... & Verbon, A. (2018). Erythrocyte Inosine triphosphatase activity: A potential biomarker for adverse events during combination antiretroviral therapy for HIV. PLoS One, 13(1), e0191069.

Nyström, K., Wanrooij, P. H., Waldenström, J., Adamek, L., Brunet, S., Said, J., ... & Lagging, M. (2018). Inosine triphosphate pyrophosphatase dephosphorylates ribavirin triphosphate and reduced enzymatic activity potentiates mutagenesis in hepatitis C virus. Journal of virology, 92(19), 10-1128.

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

Custom Antibody Labeling

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