APTX Human

Aprataxin Human Recombinant

Cat. No.

BT24957

Source

Escherichia Coli.

Synonyms

AXA1, AOA, FHA-HIT, AOA11, ataxia 1, early onset with hypoalbuminemia1 EOAHA1, EAOH1, Forkhead-associated domain histidine triad-like protein, APTX, Aprataxin, AOA1, EAOH, EOAHA, MGC1072, FLJ20157.

Appearance

Sterile Filtered clear colorless solution.

Purity

Greater than 95.0% as determined by SDS-PAGE.

Usage

THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.

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Description

APTX Human Recombinant fused to a 37 amino acid His Tag at N-terminal produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 205 amino acids (1-168 a.a) and having a molecular mass of 23.9 kDa.
The APTX is purified by proprietary chromatographic techniques.

Product Specs

Introduction

APTX, a DNA-binding protein, plays a crucial role in DNA repair mechanisms, including single-strand break repair, double-strand break repair, and base excision repair. It identifies and processes abortive DNA ligation intermediates that occur at base excision sites or when DNA ligases attempt to repair non-ligatable breaks caused by reactive oxygen species. APTX facilitates the release of adenylate groups covalently attached to 5'-phosphate termini, generating 5'-phosphate termini suitable for efficient rejoining. Additionally, APTX exhibits catalytic activity in hydrolyzing adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), although with lower efficiency.

Description

Recombinant human APTX, expressed in E. coli, is a single, non-glycosylated polypeptide chain with a molecular weight of 23.9 kDa. It comprises 205 amino acids, including a 37 amino acid His Tag fused at the N-terminus (1-168 a.a). The purification process involves proprietary chromatographic techniques to ensure high purity.

Physical Appearance

Clear, colorless solution that has been sterilized by filtration.

Formulation

The APTX solution is formulated in a buffer containing 20mM Tris-HCl (pH 7.5), 0.1M NaCl, 0.1mM PMSF, and 20% glycerol.

Stability

For short-term storage (2-4 weeks), the APTX vial can be stored at 4°C. For extended storage, it is recommended to freeze the solution at -20°C. To further enhance long-term stability, adding a carrier protein such as 0.1% HSA or BSA is advisable. Avoid subjecting the solution to repeated freeze-thaw cycles.

Purity

The purity of APTX is determined by SDS-PAGE analysis and is guaranteed to be greater than 95.0%.

Synonyms

AXA1, AOA, FHA-HIT, AOA11, ataxia 1, early onset with hypoalbuminemia1 EOAHA1, EAOH1, Forkhead-associated domain histidine triad-like protein, APTX, Aprataxin, AOA1, EAOH, EOAHA, MGC1072, FLJ20157.

Source

Escherichia Coli.

Amino Acid Sequence

MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWAGSMQD PKMQVYKDEQ VVVIKDKYPK ARYHWLVLPW TSISSLKAVA REHLELLKHM HTVGEKVIVD FAGSSKLRFR LGYHAIPSMS HVHLHVISQD FDSPCLKNKK HWNSFNTEYF LESQAVIEMV QEAGRVTVRD GMPELLKLPL RCHECQQLLP SIPQLKEHLR KHWTQ.

Product Science Overview

Introduction

Aprataxin is a protein encoded by the APTX gene in humans. It belongs to the histidine triad (HIT) superfamily, which includes proteins with nucleotide-binding and diadenosine polyphosphate hydrolase activities. Aprataxin plays a crucial role in DNA repair, particularly in the repair of single-strand breaks (SSBs) in DNA.

Function and Mechanism

Aprataxin is involved in the DNA damage response and repair pathways. It specifically removes adenylate groups from the 5’ ends of DNA, which are added during abortive DNA ligation attempts by DNA ligase IV. This removal is essential for subsequent successful ligation and repair of DNA breaks. Aprataxin interacts with several key proteins involved in DNA repair, including XRCC1, PARP-1, and p53 .

Clinical Significance

Mutations in the APTX gene are associated with a rare neurological disorder known as Ataxia-Oculomotor Apraxia 1 (AOA1). This disorder is characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. Patients with AOA1 exhibit increased sensitivity to agents that cause single-strand breaks in DNA, leading to genome instability.

Recombinant Aprataxin

Recombinant aprataxin is produced using recombinant DNA technology, which involves inserting the APTX gene into an expression system, such as bacteria or yeast, to produce the protein in large quantities. This recombinant protein is used in various research applications to study its function, interactions, and role in DNA repair mechanisms.

Research and Applications

Research on aprataxin has provided significant insights into its role in maintaining genomic stability and protecting against genotoxic stress. Studies have demonstrated that aprataxin interacts with other DNA repair proteins and is involved in the cellular response to DNA damage. Recombinant aprataxin is used in biochemical assays to investigate its enzymatic activities and interactions with other proteins.

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APTX Human

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