Homo Sapiens
RPE65 - Retinoid Isomerohydrolase RPE65
Alias:
p63
BCO3
LCA2
RP20
rd12
mRPE65
sRPE65
Enzymes
FDA approved drug targets
Human disease related genes
Metabolic proteins
Basic Information
The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Models
Reference
RPE65 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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Disease
Anatomical category
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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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Tile View
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Transcript
Length(nt)
Exon count
CDS(bp)
Protein
Length(aa)
* 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
Organ
Expression
Alphabetical
Cell-specific RNA expression
Organ
Expression
Alphabetical
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.
Acting
Regulation
Detail
Mechanism
Target
Residues
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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.
Name
CAS Number
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Mechanism of Action
Link
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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PMID
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Comparison
BioGPT