Homo Sapiens
AIPL1 - Aryl Hydrocarbon Receptor Interacting Protein Like 1
Alias:
LCA4
AIPL2
Human disease related genes
Basic Information
Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Basic Information
NCBI
Transcripts
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Mutations
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Reference
AIPL1 Genetics information (Negative Sense)
- Chr
Sequence Homology
Humans, mice, and rats have highly similar genes, making them important for disease research and drug development. By studying their gene relationships, researchers can develop effective treatments for both humans and animals. Gene homology among these organisms allows for the translation of animal experimental results to humans, improving disease treatment and prevention.
Orthologs:
No Orthologs
Disease & Mutation
The fundamental building blocks of an organism's genetic code are its genes. The biological qualities and functions are determined by the genetic instructions they contain. On the other hand, genetic mutations, or differences in their sequence, can result in aberrant protein activity, which impacts cellular function and eventually causes illness. Consequently, thorough investigation into the connection between genetic abnormalities and illnesses is essential for both therapy and prevention. Knowing the genetic abnormalities causing certain diseases can aid in the development of targeted therapies, enhance patients' quality of life, and perhaps lead to the disease's cure.
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Transcripts & Proteins
Transcripts are RNA molecules that are created during DNA transcription, and the translation products of these transcripts are proteins that serve numerous roles in the body. Transcripts and proteins are both important in biological research. The research of transcripts can help us uncover the subtle links between genes and illnesses, whereas the study of proteins can help us understand the processes of cellular function and disease etiology, as well as give prospective treatment targets.
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* This data comes from NCBI.
Gene Expression
The level of gene activity in a particular tissue or cell can be identified by its expression. Understanding the physiological processes and disease causes of organisms depends heavily on the specificity of gene expression levels in various tissues or cells. A thorough examination of the tissue and cell specificity of gene expression will contribute to the understanding of the genetic basis of disease and offer novel approaches to both prevent and cure disease.
Tissue-specific RNA expression
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Expression
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Cell-specific RNA expression
Organ
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Protein Interaction
Protein-protein interaction is when two or more proteins bind together to perform their functions. It plays a vital role in most biochemical processes, such as signal molecules transmitting signals between cells. Molecular machines within the cells perform important functions through protein-protein interactions.
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Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
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References
Within the biological sciences, gene-related research literature is a valuable and essential resource. They meticulously document the composition, operation, and interaction of genes, giving us important hints to solve the enigmas surrounding life.
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