Mutations in PDE6D Gene Linked To Blindness (G5147)

Target Name: PDE6D

NCBI ID: G5147

PDE6D

Mutations in PDE6D Gene Linked To Blindness

PDE6D (Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta (isoform 1)) is a protein that is expressed in the retina and is involved in the process of visual perception. It is a member of the cGMP 3',5'-cyclic phosphodiesterase family and is responsible for breaking down a key neurotransmitter cGMP in the retina, which is involved in the transduction of visual information. Mutations in the PDE6D gene have been linked to a range of disorders, including blindness, cataracts, and optic neuron dysfunction.

The PDE6D gene has four splice variants, Isoform 1, Isoform 2, Isoform 3, and Isoform 4, which result in different levels of gene expression. Isoform 1 is the most abundant and is responsible for the majority of the protein production. Isoform 2 is a splice variant that is predominantly expressed in the optic nerve and is involved in the development of optic neuron dysfunction. Isoform 3 is a splice variant that is predominantly expressed in the retina and is involved in the process of visual perception. Isoform 4 is a splice variant that is not expressed in the retina and is involved in the regulation of gene expression in the retina.

Expression of PDE6D in the retina

PDE6D is expressed in the retina and is involved in the process of visual perception. It is located in the retina ganglion cell layer and is part of the photoreceptor complex, which is responsible for transmitting visual information from the retina to the brain. PDE6D is involved in the breakdown of cGMP, which is a key neurotransmitter involved in the transduction of visual information.

Function of PDE6D

PDE6D is involved in the process of visual perception and is responsible for breaking down cGMP, which is a key neurotransmitter involved in the transduction of visual information. It is a member of the cGMP 3',5'-cyclic phosphodiesterase family and is responsible for breaking down cGMP, which is produced by other neurons in the retina. The breakdown of cGMP by PDE6D is critical for the transduction of visual information from the retina to the brain.

Mutations in PDE6D gene

Mutations in the PDE6D gene have been linked to a range of disorders, including blindness, cataracts, and optic neuron dysfunction. The most common mutation is a missense mutation, which results in the substitution of a amino acid for a specific one. This type of mutation can result in a loss of function or an altered function of the protein.

The PDE6D gene has four splice variants, Isoform 1, Isoform 2, Isoform 3, and Isoform 4, which result in different levels of gene expression. Isoform 1 is the most abundant and is responsible for the majority of the protein production. Isoform 2 is a splice variant that is predominantly expressed in the optic nerve and is involved in the development of optic neuron dysfunction. Isoform 3 is a splice variant that is predominantly expressed in the retina and is involved in the process of visual perception. Isoform 4 is a splice variant that is not expressed in the retina and is involved in the regulation of gene expression in the retina.

The blindness caused by

Protein Name: Phosphodiesterase 6D

Functions: Promotes the release of prenylated target proteins from cellular membranes (PubMed:9712853). Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location (PubMed:22002721, PubMed:23698361). Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E (PubMed:24166846). Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation rate (By similarity)

The "PDE6D Target / Biomarker Review Report" is a customizable review of hundreds up to thousends of related scientific research literature by AI technology, covering specific information about PDE6D comprehensively, including but not limited to:
•   general information;
•   protein structure and compound binding;
•   protein biological mechanisms;
•   its importance;
•   the target screening and validation;
•   expression level;
•   disease relevance;
•   drug resistance;
•   related combination drugs;
•   pharmacochemistry experiments;
•   related patent analysis;
•   advantages and risks of development, etc.
The report is helpful for project application, drug molecule design, research progress updates, publication of research papers, patent applications, etc. If you are interested to get a full version of this report, please feel free to contact us at BD@silexon.ai

More Common Targets