Recombinant Human AIRE Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: AIRE-1696H
• Product Overview: AIRE MS Standard C13 and N15-labeled recombinant protein (NP_000374) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• Description: This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED).
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 57.5 kDa
• AA Sequence: MATDAALRRLLRLHRTEIAVAVDSA FPLLHALADHDVVPEDKFQETLHLK EKEGCPQAFHALLSWLLTQDSTAIL DFWRVLFKDYNLERYGRLQPILDSF PKDVDLSQPRKGRKPPAVPKALVPP PRLPTKRKASEEARAAAPAALTPRG TASPGSQLKAKPPKKPESSAEQQRL PLGNGIQTMSASVQRAVAMSSGDVP GARGAVEGILIQQVFESGGSKKCIQ VGGEFYTPSKFEDSGSGKNKARSSS GPKPLVRAKGAQGAAPGGGEARLGQ QGSVPAPLALPSDPQLHQKNEDECA VCRDGGELICCDGCPRAFHLACLSP PLREIPSGTWRCSSCLQATVQEVQP RAEEPRPQEPPVETPLPPGLRSAGE EVRGPPGEPLAGMDTTLVYKHLPAP PSAAPLPGLDSSALHPLLCVGPEGQ QNLAPGARCGVCGDGTDVLRCTHCA AAFHWRCHFPAGTSRPGTGLRCRSC SGDVTPAPVEGVLAPSPARLAPGPA KDDTASHEPALHRDDLESLLSEHTF DGILQWAIQSMARPAAPFPSTRTRP LEQKLISEEDLAANDILDYKDDDDK V
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: AIRE autoimmune regulator [ Homo sapiens (human) ]
• Official Symbol: AIRE
• Synonyms: AIRE; autoimmune regulator; APECED, autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy); APS1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy; PGA1; autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; APSI; AIRE1; APECED
• Gene ID: 326
• mRNA Refseq: NM_000383
• Protein Refseq: NP_000374
• MIM: 607358
• UniProt ID: O43918

Reviews

06/27/2021

With the AIRE protein as my reliable research resource, I am poised to unravel the mysteries that surround this protein and make significant strides in advancing our understanding in my field of study.

08/21/2020

Their unwavering commitment to providing outstanding assistance ensures that I can navigate any potential hurdles in my research journey with ease.

06/02/2020

By harnessing the outstanding qualities of the AIRE protein and tapping into the manufacturer's exceptional technical support, I can confidently tackle complex experimental problems.

11/22/2017

The AIRE protein stands as a benchmark for exceptional quality, precisely tailored to fulfill my experimental requirements.

Q&As

Can the AIRE protein have any non-immune-related functions?

While the AIRE protein is primarily known for its immune-related functions, studies suggest that it may also have non-immune-related roles in various tissues. Recent research has linked AIRE to the regulation of cell proliferation, differentiation, and apoptosis, as well as cellular stress response pathways. However, the precise mechanisms and significance of these non-immune functions of AIRE are not fully understood and require further investigation.

What are the treatment options for APS-1?

The management of APS-1 involves treating the individual symptoms and complications associated with the disorder. For example, hormone replacement therapy is used to address hormone deficiencies, such as adrenal insufficiency or hypoparathyroidism. Frequent monitoring and adjustment of hormone levels are necessary to maintain proper function. In cases of chronic mucocutaneous candidiasis, antifungal medications are prescribed to control the infections. Additionally, regular check-ups and screening for associated autoimmune diseases are important for early detection and intervention.

Besides APS-1, are there any other conditions associated with AIRE protein dysfunction?

While APS-1 is the primary disorder associated with AIRE protein dysfunction, studies have suggested that variations in AIRE function may contribute to the development of other autoimmune diseases. For example, alterations in AIRE expression or gene mutations have been observed in certain cases of autoimmune thyroid disease, type 1 diabetes, and systemic lupus erythematosus. However, the exact role of AIRE in these conditions and the extent of its impact are still being investigated.

Can the AIRE protein be targeted for therapeutic purposes?

The AIRE protein has been a subject of interest for potential therapeutic interventions. Its role in promoting immune tolerance makes it an attractive target for strategies aimed at restoring tolerance in autoimmune diseases. Researchers have explored approaches like immune-modulating drugs and strategies to promote promiscuous gene expression in non-thymic tissues. However, these approaches are still in the experimental stages and much research is needed before they can be translated into clinical applications.

How is APS-1 diagnosed?

The diagnosis of APS-1 is typically based on clinical presentation, family history, and laboratory tests. The presence of specific autoimmune conditions, recurrent infections, and characteristic features can raise suspicion. Genetic testing can confirm the diagnosis by identifying mutations in the AIRE gene. Additionally, blood tests for autoantibodies and other markers of autoimmune diseases can be conducted.

Are there any experimental treatments or ongoing research for APS-1?

Yes, there are ongoing research efforts to further understand APS-1 and develop new treatment options. Some experimental treatments being explored include immune-modulating therapies, gene therapy, and stem cell transplantation. These interventions aim to restore immune tolerance and potentially prevent or reverse autoimmune reactions associated with APS-1. However, these approaches are still in the early stages of development and require further investigation.

What are the potential complications of APS-1?

APS-1 can lead to various complications due to the multiple systems affected by autoimmune attacks. These complications can include recurrent infections, organ damage (such as in the kidneys or liver), neurological problems, gastrointestinal issues, reproductive difficulties, and an increased risk of developing other autoimmune diseases. Regular medical care, monitoring, and proactive management of symptoms are essential to minimize the risk and impact of these complications.

What happens when there are mutations in the AIRE gene?

Mutations in the AIRE gene can lead to a rare genetic disorder called autoimmune polyendocrine syndrome type 1 (APS-1), also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy). These mutations result in dysfunctional or absent AIRE protein, leading to impaired central tolerance and the development of multiple autoimmune conditions affecting various endocrine organs and sometimes other tissues.

Are there any lifestyle changes that can help individuals with APS-1?

While there are no specific lifestyle changes that can cure APS-1, individuals with the condition can adopt certain lifestyle practices to support their overall health and well-being. This may include maintaining a balanced and nutritious diet to support optimal immune function and hormone production. Regular exercise and physical activity can also be beneficial for maintaining cardiovascular health and managing stress levels. Additionally, individuals with APS-1 should avoid exposure to known triggers that can worsen autoimmune symptoms, such as certain infections or environmental toxins. Following the advice and recommendations of healthcare providers can help individuals with APS-1 make informed choices about their lifestyle habits.

How does the AIRE protein function?

The AIRE protein functions by facilitating the expression of a wide variety of tissue-specific antigens in the thymus. This process is known as promiscuous gene expression. By presenting self-antigens to developing T-cells, the AIRE protein helps eliminate or control autoreactive T-cells, thereby preventing autoimmune reactions against self-tissues.

What are some symptoms of APS-1?

APS-1 is characterized by a combination of autoimmune endocrine disorders, such as hypoparathyroidism, adrenal insufficiency, and primary hypogonadism. Other symptoms can include chronic mucocutaneous candidiasis (persistent fungal infections of the skin and nails), enamel hypoplasia (malformation of tooth enamel), and various non-endocrine autoimmune conditions, including autoimmune hepatitis, autoimmune thyroiditis, and more.