Recombinant Rhesus monkey AIPL1 Protein, His-tagged

• Cat.No.: AIPL1-282R
• Product Overview: Recombinant Rhesus monkey AIPL1 full length or partial length protein was expressed.

Specification

• Source: Mammalian Cells
• Species: Rhesus monkey
• Tag: His
• Form: Liquid or lyophilized powder
• Endotoxin: < 1.0 EU per μg of the protein as determined by the LAL method.
• Purity: >80%
• Notes: This item requires custom production and lead time is between 5-9 weeks. We can custom produce according to your specifications.
• Storage: Store it at +4 ºC for short term. For long term storage, store it at -20 ºC~-80 ºC.
• Storage Buffer: PBS buffer

Gene Information

• Gene Name: AIPL1 aryl hydrocarbon receptor interacting protein-like 1 [ Macaca mulatta (Rhesus monkey) ]
• Official Symbol: AIPL1
• Synonyms: AIPL1; aryl-hydrocarbon-interacting protein-like 1; aryl-hydrocarbon interacting protein-like 1
• Gene ID: 574331
• mRNA Refseq: NM_001032932
• Protein Refseq: NP_001028104
• UniProt ID: F7EZA1

Reviews

11/29/2020

By leveraging the remarkable qualities of the AIPL1 protein and tapping into the manufacturer's exceptional technical support, I am confident that I will be able to solve complex experimental problems.

06/08/2017

With AIPL1 as my research ally, I am poised to embark on a path of discovery, unraveling the mysteries that surround this protein and advancing our understanding in my field of study.

10/26/2016

AIPL1 protein stands out for its exceptional quality, rendering it an ideal choice to fulfill my experimental requirements.

09/03/2016

Its unparalleled purity and reliability guarantee accurate and reproducible results, imparting confidence in the validity of my scientific investigations.

02/05/2016

In addition to its high quality, the manufacturer of the AIPL1 protein offers excellent technical support, an invaluable resource for overcoming any challenges that may arise.

Q&As

Can AIPL1-related conditions lead to other health problems apart from vision loss?

AIPL1-related conditions primarily affect vision and are characterized by retinal degeneration. However, there have been reports of some individuals with AIPL1 mutations experiencing extraocular symptoms. These symptoms can include mild intellectual disability, developmental delay, hearing loss, or skeletal abnormalities. It is important to note that the severity and manifestation of these additional health problems can vary among affected individuals.

What are the symptoms of AIPL1-related conditions?

The symptoms of AIPL1-related conditions, like LCA, typically manifest early in life and vary in severity. Common symptoms include severe visual impairment or blindness at birth or in infancy, abnormal eye movements, poor pupillary response, and reduced or absent retinal responses on electroretinography (ERG) testing. Some individuals may also have associated features like nystagmus (involuntary eye movements), cataracts, or hyperopia (farsightedness).

Is genetic testing available for AIPL1 mutations?

Yes, genetic testing is available to identify mutations in the AIPL1 gene. This can be helpful in confirming a diagnosis of AIPL1-related conditions and allowing for genetic counseling for affected individuals and their families. Genetic testing can also assist in predicting the likelihood of passing on the mutation to future generations.

How common are AIPL1-related conditions?

AIPL1-related conditions, specifically Leber congenital amaurosis (LCA) caused by AIPL1 mutations, are considered rare. The prevalence of LCA overall is estimated to be around 1 in 30,000 to 1 in 80,000 individuals in the general population, but it can vary depending on the specific population studied.

Are there any support groups or organizations for individuals with AIPL1-related conditions?

Yes, there are several support groups and organizations that provide resources, information, and support for individuals and families affected by AIPL1-related conditions, specifically LCA. Some examples include the LCA Society, the Foundation Fighting Blindness, and the National Organization for Rare Disorders (NORD). These organizations offer a range of services, including peer support networks, educational materials, research updates, and access to clinical trials.

How is AIPL1-related vision loss diagnosed?

AIPL1-related vision loss is typically diagnosed through a combination of clinical evaluations, family history assessment, electroretinography (ERG), and genetic testing. Clinical exams involve a thorough evaluation of visual function, including visual acuity, visual field, and fundoscopy to assess the appearance of the retina. ERG measures the electrical activity of the retina and can help identify abnormalities in the retinal function. Genetic testing involves analyzing the AIPL1 gene for mutations using techniques such as DNA sequencing.

What happens if there is a mutation in the AIPL1 gene?

Mutations in the AIPL1 gene can lead to a condition called Leber congenital amaurosis (LCA), which is a severe form of inherited retinal degeneration. These mutations impair the normal function of the AIPL1 protein, resulting in abnormal protein folding and trafficking in photoreceptor cells. This ultimately leads to the degeneration of these cells and progressive vision loss.

Can AIPL1 mutations cause conditions other than LCA?

AIPL1 mutations primarily cause LCA, but there have been rare reports of additional ocular conditions associated with AIPL1 gene defects, such as cone-rod dystrophy (a type of retinal degeneration) and juvenile retinitis pigmentosa (a progressive degenerative disease affecting the retinal cells).

Is there any treatment available for AIPL1-related conditions?

Currently, there is no known cure for AIPL1-related conditions, including LCA. However, there are ongoing research efforts exploring potential treatments. Gene therapy is a promising approach being investigated, where a functional copy of the AIPL1 gene is delivered to the affected cells in the retina to restore proper function. Other therapeutic strategies, such as stem cell therapy and pharmacological interventions, are also being explored in preclinical and early clinical trials.

Can AIPL1-related conditions be inherited?

Yes, AIPL1-related conditions are typically inherited in an autosomal recessive manner. This means that an affected individual inherits two copies of the AIPL1 gene with mutations, one from each parent who is usually a carrier. Carriers of an AIPL1 mutation usually have no or mild symptoms, but they have a 25% chance of passing on the mutated gene to each of their children. Genetic counseling is recommended for individuals or couples with a family history or a known risk of AIPL1-related conditions.

Are there any support groups or resources for AIPL1-related conditions?

Yes, there are various support groups and organizations that provide information, resources, and support for individuals and families affected by AIPL1-related conditions, such as the Foundation Fighting Blindness and the LCA Network. These organizations can offer guidance, connect individuals with medical professionals and researchers, and provide a community of support for those affected by these conditions.

Are there any ongoing research studies or clinical trials related to AIPL1-related conditions?

Yes, there are ongoing research studies and clinical trials focused on understanding AIPL1-related conditions and developing potential treatments. These studies may involve gene therapy, stem cell therapy, pharmacological interventions, or other innovative approaches. ClinicalTrials.gov is a useful resource to search for current clinical trials and research studies related to AIPL1 and associated conditions. Additionally, academic institutions, research organizations, and eye centers often conduct studies related to these conditions.

Can AIPL1-related conditions be treated?

Currently, there is no cure for AIPL1-related conditions such as Leber congenital amaurosis. However, there are ongoing research efforts exploring potential treatments, including gene therapy and drug-based approaches. These aim to replace or restore the function of the AIPL1 protein or target other factors involved in the disease process.

Can AIPL1 mutations be detected prenatally?

Yes, it is possible to detect AIPL1 mutations prenatally through prenatal genetic testing, such as chorionic villus sampling (CVS) or amniocentesis. These tests involve collecting a sample of fetal cells or amniotic fluid to analyze the DNA and identify any genetic abnormalities, including AIPL1 mutations. Prenatal testing is typically offered in cases where there is a known risk of an inherited condition based on family history or previous affected pregnancies.

How is AIPL1-related LCA diagnosed?

Diagnosis of AIPL1-related LCA involves a combination of clinical examination, electroretinography (ERG) to evaluate retinal function, and genetic testing to identify AIPL1 mutations. A detailed medical history, family history, and thorough clinical evaluation, including assessments of visual acuity, visual fields, and examination of the retina, are also performed to reach an accurate diagnosis.

How common are AIPL1-related conditions?

AIPL1-related conditions, such as LCA caused by AIPL1 gene mutations, are considered to be rare disorders. The exact prevalence is difficult to determine since it varies among different populations. It has been estimated that LCA affects approximately 1 in 80,000 to 100,000 live births in the general population. However, the prevalence may be higher in specific regions or communities where consanguineous marriages are more common.

What are some of the early signs and symptoms of AIPL1-related conditions?

The signs and symptoms of AIPL1-related conditions, such as LCA, typically appear within the first year of life. Infants may exhibit poor visual responsiveness, including fixed or roving eye movements, nystagmus (involuntary eye movements), and severely reduced visual acuity. Other signs can include sensitivity to light (photophobia), abnormal pupillary responses, and delayed developmental milestones related to vision. These symptoms may vary among individuals, and early diagnosis is crucial for appropriate management and intervention.

Can AIPL1-related conditions be inherited?

Yes, AIPL1-related conditions are generally inherited in an autosomal recessive manner. This means that both parents must carry a mutated AIPL1 gene and pass it on to their child for the condition to manifest. If both parents are carriers, each of their offspring has a 25% chance of inheriting both copies of the mutated gene and having the condition.

Does AIPL1 have any other known functions in the body?

AIPL1 is primarily known for its role in the retina and its involvement in photoreceptor function. Its function outside the retina is less well understood, but studies have suggested its involvement in cellular processes like DNA repair and maintenance of genomic stability. Further research is needed to fully understand the broader functions of AIPL1 in the body.