Recombinant Human APTX protein

• Cat.No.: APTX-1540H
• Product Overview: Recombinant protein was expressed in and purified from E. coli.

Specification

• Description: Aprataxin is the product of the AOA1 (ataxia-ocular apraxia) gene. Mutation in this gene results in a human neurodegenerative disease with early onset ataxia with ocular motor apraxia and hypoalbuminemia. Aprataxin interacts with XRCC1. This protein is likely involved in DNA repair of single strand breaks.
• Source: E. coli
• Species: Human
• Form: 20 mM Tris-HCl, pH 7.5, 300 mM NaCl, 200 mM imidazole, 10% glycerol.
• Molecular Mass: 20 kDa

Gene Information

• Gene Name: APTX aprataxin [ Homo sapiens ]
• Official Symbol: APTX
• Synonyms: APTX; aprataxin; AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
• Gene ID: 54840
• mRNA Refseq: NM_001195248.1
• Protein Refseq: NP_001182177.1
• MIM: 606350
• UniProt ID: Q7Z2E3

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.

Q&As

Are there any known mutations in the APTX gene?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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

Can APTX mutations affect fertility?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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?

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.