AIPL1
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Official Full Name
aryl hydrocarbon receptor interacting protein-like 1
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Overview
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. -
Synonyms
AIPL1; aryl hydrocarbon receptor interacting protein-like 1; aryl hydrocarbon receptor interacting protein like 1 , LCA4; aryl-hydrocarbon-interacting protein-like 1; LCA4; AIPL2;
- Recombinant Proteins
- Cell & Tissue Lysates
- Protein Pre-coupled Magnetic Beads
- Human
- Mouse
- Rat
- Rhesus Macaque
- E.coli
- HEK293
- HEK293T
- In Vitro Cell Free System
- Mammalian Cell
- Wheat Germ
- GST
- His
- His (Fc)
- Avi
- Myc
- DDK
- MYC
- N/A
- Involved Pathway
- Protein Function
- Interacting Protein
AIPL1 involved in several pathways and played different roles in them. We selected most pathways AIPL1 participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with AIPL1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
Pathway Name | Pathway Related Protein |
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AIPL1 has several biochemical functions, for example, farnesylated protein binding, protein binding, unfolded protein binding. Some of the functions are cooperated with other proteins, some of the functions could acted by AIPL1 itself. We selected most functions AIPL1 had, and list some proteins which have the same functions with AIPL1. You can find most of the proteins on our site.
Function | Related Protein |
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farnesylated protein binding | |
protein binding | HHLA2;RBP7;TESK2;ACAD9;PARP9;RBM17;GCKR;CDC26;SNRNP25 |
unfolded protein binding | PFDN4;CLGN;DNAJB1;HSPA6;CCT3;DNAJB13;CDC37L1;CALRL2;CCT5 |
AIPL1 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 AIPL1 here. Most of them are supplied by our site. Hope this information will be useful for your research of AIPL1.
TINF2; NUB1; nub1_chlae_protein; ACD; POT1
- Q&As
- Reviews
Q&As (19)
Ask a questionAIPL1-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.
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).
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.
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.
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.
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Customer Reviews (5)
Write a reviewBy 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.
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.
AIPL1 protein stands out for its exceptional quality, rendering it an ideal choice to fulfill my experimental requirements.
Its unparalleled purity and reliability guarantee accurate and reproducible results, imparting confidence in the validity of my scientific investigations.
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.
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