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APTX

  • Official Full Name

    aprataxin

  • Overview

    This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.
  • Synonyms

    APTX; aprataxin; ataxia 1, early onset with hypoalbuminemia , AXA1; AOA; AOA1; EAOH; EOAHA; FLJ20157; AOA 1; Aprataxin homolog; Ataxia 1 early onset with hypoalbuminemia; Ataxia1 early onset with hypoalbuminemia; AXA 1; AXA1; FHA HIT; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein; MGC1072; forkhead-associated domain histidine triad-like protein; FHA-HIT;

  • Recombinant Proteins
  • Cell & Tissue Lysates
  • Protein Pre-coupled Magnetic Beads
  • Chicken
  • Human
  • Rat
  • Rhesus Macaque
  • Zebrafish
  • E.coli
  • HEK293
  • In Vitro Cell Free System
  • Mammalian Cell
  • Wheat Germ
  • GST
  • His
  • His (Fc)
  • Avi
  • N/A
  • T7
Species Cat.# Product name Source (Host) Tag Protein Length Price
Human APTX-1935H Recombinant Human Aprataxin, His-tagged E.coli His
Human APTX-1540H Recombinant Human APTX protein E.coli N/A
Human APTX-731H Recombinant Human APTX protein, GST-tagged Wheat Germ GST
Human APTX-258H Recombinant Human APTX protein, T7-tagged E.coli T7
Human APTX-103HCL Recombinant Human APTX cell lysate N/A
Human APTX-3135H Recombinant Human APTX protein, His-tagged E.coli His 1-164 aa
Human APTX-301444H Recombinant Human APTX protein, GST-tagged E.coli GST Met1-Leu164
Human APTX-1212HF Recombinant Full Length Human APTX Protein, GST-tagged In Vitro Cell Free System GST 254 amino acids
Rat APTX-734R Recombinant Rat APTX Protein Mammalian Cell His
Rat APTX-390R Recombinant Rat APTX Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi
Rat APTX-390R-B Recombinant Rat APTX Protein Pre-coupled Magnetic Beads HEK293
Rhesus Macaque APTX-370R Recombinant Rhesus monkey APTX Protein, His-tagged Mammalian Cell His
Rhesus Macaque APTX-199R-B Recombinant Rhesus Macaque APTX Protein Pre-coupled Magnetic Beads HEK293
Rhesus Macaque APTX-199R Recombinant Rhesus Macaque APTX Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi
Zebrafish APTX-12755Z Recombinant Zebrafish APTX Mammalian Cell His
Chicken APTX-5519C Recombinant Chicken APTX Mammalian Cell His
  • Involved Pathway
  • Protein Function
  • Interacting Protein

APTX involved in several pathways and played different roles in them. We selected most pathways APTX participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with APTX were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name Pathway Related Protein

APTX has several biochemical functions, for example, DNA 5-adenosine monophosphate hydrolase activity, chromatin binding, damaged DNA binding. Some of the functions are cooperated with other proteins, some of the functions could acted by APTX itself. We selected most functions APTX had, and list some proteins which have the same functions with APTX. You can find most of the proteins on our site.

Function Related Protein
DNA 5-adenosine monophosphate hydrolase activity
chromatin bindingNCAPD2;WHSC1;PELP1;HDAC2;CBFA2T3;PHC1;CENPA;TAF2;KLF6A
damaged DNA bindingTP53BP1;TRPC2;XRCC6;CRY-DASH;POLD1;GTF2H3;FANCG;CREBBP;APEX1
double-stranded DNA bindingNKX2-8;AKAP8;USF1;CGGBP1;XRCC5;MTERF2;DDX11;GTF2H4;RAD51L3
double-stranded RNA bindingDROSHA;RFTN1;HSPD1;TFRC;IFIH1;OAS3;HMGB1;OAS1A;LSM14A
metal ion bindingGNAT2;GUCA1B;RBM26;KLF14;ITGA5;NINL;RNF26;ZFP322A;DGKAA
phosphoglycolate phosphatase activityAPTX;PGP
phosphoprotein bindingLRP11;CSNK1D;RB1;TBK1;PLAT;LYN;SAG;PIH1D1;FKBP4
polynucleotide 3-phosphatase activityPNKP;APTX
protein N-terminus bindingTP53;SERPINB1A;YWHAQ;ATM;ACOX1;RBPJ;SUV39H1;RELA;FEZ1
protein bindingC7orf25;FAP;PYGO2;LSM11;SMAD3;MED6;HSD17B8;PTK6;WRNIP1

APTX has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with APTX here. Most of them are supplied by our site. Hope this information will be useful for your research of APTX.

XRCC1; XRCC4

  • Q&As
  • Reviews

Q&As (29)

Ask a question
Are there any known mutations in the APTX gene? 03/24/2023

Yes, mutations in the APTX gene have been identified and are associated with Ataxia-Oculomotor Apraxia type 1 (AOA1), which is a neurodegenerative disorder characterized by progressive impairment of movement and coordination.

Can APTX mutations lead to other diseases or conditions? 03/13/2023

APTX mutations are primarily associated with Ataxia-Oculomotor Apraxia type 1. However, there is ongoing research to explore potential links between APTX mutations and other diseases or conditions.

How is APTX involved in telomere maintenance? 01/21/2023

APTX has been shown to play a role in telomere maintenance by resolving DNA secondary structures called G-quadruplexes, which can form at telomeric DNA. APTX helps prevent the formation of these structures or resolves them to ensure proper telomere function and stability.

Can APTX deficiency be diagnosed through clinical symptoms alone? 10/18/2022

Clinical symptoms alone are not sufficient to diagnose APTX deficiency. Genetic testing is necessary to confirm the presence of APTX mutations and definitively diagnose AOA1.

Are there any animal models of AOA1 that are used for research purposes? 05/19/2022

Yes, several animal models of AOA1 have been developed to study the disease and test potential therapeutic interventions. These include mouse models with targeted APTX gene mutations, as well as models using other organisms such as zebrafish and nematodes.

How is the APTX protein regulated in the body? 01/01/2022

The regulation of APTX is not fully understood, but it is thought to be regulated at the transcriptional level by various factors that can influence its expression.

How is APTX involved in RNA metabolism? 11/13/2021

APTX has been found to interact with RNA-binding proteins and RNA processing factors, suggesting a potential role in RNA metabolism. However, the exact mechanisms and functions of APTX in RNA processing are still being investigated.

Are there any potential therapeutic strategies targeting APTX mutations? 08/26/2021

Several therapeutic strategies are being explored for AOA1 caused by APTX mutations. These include gene therapy approaches to restore APTX expression, small molecule drug screens to identify compounds that can modulate APTX activity, and potential interventions targeting downstream pathways affected by APTX deficiency.

Can APTX mutations be detected through genetic testing? 08/08/2021

Yes, genetic testing can be used to detect mutations in the APTX gene. This can be done through techniques such as DNA sequencing, which can identify specific mutations or variations in the APTX gene associated with AOA1.

Are there any animal models used to study APTX deficiency? 06/29/2021

Yes, animal models such as mice and zebrafish with APTX gene knockout or mutations have been generated to mimic AOA1 and study the disease mechanisms as well as potential therapeutic strategies.

How is APTX involved in DNA repair? 05/09/2021

APTX plays a crucial role in the base excision repair (BER) pathway, which is responsible for repairing DNA damage caused by oxidative stress. APTX acts as a DNA 5'-AMP lyase, resolving abortive DNA ligation intermediates that arise during BER. It removes the non-adenylated 5'-DNA ends and allows for proper repair and sealing of the DNA strand break.

Are there any known interacting partners of APTX? 04/13/2021

APTX has been reported to interact with several proteins involved in DNA repair, such as XRCC1 and DNA Ligase III.

Is there ongoing research on the APTX protein? 02/27/2021

Yes, research on the APTX protein is actively ongoing to further understand its function, regulation, and potential therapeutic implications, particularly for neurodegenerative disorders such as AOA1.

Are there any known compounds that can modulate APTX activity? 10/03/2020

At present, there are no known specific compounds that can directly modulate APTX activity. However, ongoing research aims to identify potential small molecule inhibitors or activators of APTX for therapeutic purposes.

Are there any clinical trials investigating potential treatments for AOA1 caused by APTX mutations? 07/08/2020

There are currently no clinical trials specifically targeting AOA1 caused by APTX mutations. However, ongoing research may lead to the development of potential therapeutic interventions in the future.

Does APTX have any non-DNA repair functions? 06/11/2020

Yes, APTX has been implicated in RNA processing and mitochondrial function beyond its role in DNA repair.

Can APTX mutations affect fertility? 02/13/2020

APTX mutations have been associated with fertility issues in some individuals. Studies have reported cases of reduced fertility, early menopause, and spermatogenesis defects in patients with AOA1 caused by APTX mutations. However, the effects on fertility can vary between individuals and further research is needed to fully understand this aspect of the disease.

Are there any therapeutic strategies targeting APTX for DNA repair-related disorders? 01/18/2020

Currently, there are no specific therapeutic strategies targeting APTX. However, research on understanding its role in DNA repair may provide insights for potential therapeutic interventions in the future.

Is there a cure for AOA1 caused by APTX mutations? 12/11/2019

Currently, there is no cure for AOA1 caused by APTX mutations. Treatment mainly focuses on managing symptoms and providing supportive care. However, ongoing research into potential therapeutic strategies may lead to the development of targeted treatments in the future.

Can APTX mutations be inherited in an autosomal dominant or autosomal recessive manner? 07/22/2019

APTX mutations associated with AOA1 are inherited in an autosomal recessive manner. This means that individuals need to inherit two mutated copies of the APTX gene (one from each parent) to develop the disease. If only one copy of the gene is mutated, the individual is considered a carrier but does not typically exhibit symptoms of AOA1.

How common is AOA1 caused by APTX mutations? 05/12/2019

AOA1 caused by APTX mutations is considered a rare disease. The exact prevalence is unknown, but it is estimated to affect fewer than 1 in 100,000 people worldwide.

Is APTX expression altered in other neurodegenerative diseases? 03/08/2019

APTX expression has been found to be altered in other neurodegenerative diseases, such as Alzheimer's disease and Huntington's disease. However, the exact role and significance of APTX in these diseases are still being investigated.

Can AOA1 caused by APTX mutations manifest later in life? 02/21/2019

Yes, in some cases AOA1 caused by APTX mutations may manifest later in life. The age of symptom onset can vary between individuals, with some experiencing symptoms in childhood or adolescence, while others may not develop symptoms until adulthood.

Is APTX essential for cell viability? 01/31/2018

While APTX deficiency leads to neurodegenerative diseases in humans, it is not essential for cell viability in all cell types and organisms.

Is APTX involved in any other cellular processes besides DNA repair? 12/20/2017

Yes, recent studies have suggested that APTX may have roles in telomere maintenance, RNA metabolism, mitochondrial function, and oxidative stress response, indicating its involvement in multiple cellular processes beyond DNA repair.

Can APTX deficiency lead to cancer development? 08/30/2017

APTX deficiency itself is not directly linked to cancer development. However, the accumulation of DNA strand breaks and genomic instability caused by APTX deficiency may increase the risk of cancer if other genetic or environmental factors are present.

What are the typical symptoms of AOA1 caused by APTX mutations? 04/08/2017

The typical symptoms of AOA1 caused by APTX mutations include progressive ataxia (lack of coordination and balance), muscle weakness and wasting, loss of sensation in the extremities, dysarthria (difficulty speaking), and oculomotor apraxia (inability to move the eyes accurately). Other symptoms may include cognitive impairment, neuropathy, and tremors.

Can APTX mutations lead to increased cancer susceptibility? 07/31/2016

APTX mutations have been associated with an increased risk of certain types of cancer. The DNA repair defects caused by APTX mutations can result in genomic instability, which is a hallmark of cancer development. However, the extent of cancer susceptibility in individuals with APTX mutations may vary and further research is needed to fully understand this relationship.

Are there any known therapeutic approaches for AOA1 caused by APTX mutations? 05/07/2016

Currently, no curative treatments exist for AOA1 caused by APTX mutations. However, symptomatic management approaches, such as physical therapy and supportive care, can help alleviate some of the symptoms and improve quality of life.

Customer Reviews (4)

Write a review
Reviews
01/24/2023

    With their support, I can confidently explore the intricacies of APTX and make significant contributions to the understanding of its functions in various biological processes.

    11/26/2019

      APTX is a key regulator of cellular structure and function, particularly in the context of maintaining the integrity of the cell membrane and organizing cytoskeletal components.

      03/22/2019

        This existing knowledge base provides a solid foundation for designing experiments and interpreting results, ultimately enhancing the efficiency and reliability of trials involving APTX protein.

        11/14/2016

          Extensive research has been conducted on APTX, making it relatively accessible and well-understood in terms of its structure and functions.

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