Mutations in AGBL5 associated with Retinitis pigmentosa
Diego I. Paredes, Nicholas R. Bello, Jenina E. Capasso, Rebecca Procopio, Alex V. Levin | Ophthalmic Genetics | 45(3) | 275-280 |...
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AGBL5
Disease Category: Autosomal Recessive
Patient Population:
Treatment Options: None known
Strategies to Preserve Eye Health: None known
Active Clinical Trials: None found
Institution(s) Conducting Research: University of California San Diego, Kellogg Eye Center, University of Michigan, University of Rochester
A FACE OF RP
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TBD
BRIEF DESCRIPTION
The AGBL5 gene provides instructions for making a protein that is involved in a process called deglutamylation. Deglutamylation is the removal of glutamate residues from proteins. Glutamate is an amino acid, a building block of proteins. It is thought that mutations in the AGBL5 gene disrupt the process of deglutamylation, which can lead to problems with the structure and function of proteins in the retina. This can ultimately lead to the degeneration of photoreceptor cells and vision loss.
Researchers are still learning about the role of the AGBL5 gene in arRP. However, the identification of this gene has provided new insights into the causes of this condition and may lead to the development of new treatments in the future.
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