PDE6H Gene Summary [Human]
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | PDE6H |
| Official Name | phosphodiesterase 6H [Source:HGNC Symbol;Acc:HGNC:8790] |
| Ensembl ID | ENSG00000139053 |
| Bio databases IDs | |
| Aliases | phosphodiesterase 6H, retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma |
| Synonyms | A930033D18Rik, ACHM6, Pde6g, PDEgamma, phosphodiesterase 6H, phosphodiesterase 6H, cGMP-specific, cone, gamma, phosphodiesterase 6H, cGMP-specific, cone, γ, RCD3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDE6H often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enzyme inhibitor activity
- Retinal cGMP phosphodiesterase, gamma subunit
- enzyme
- protein binding
Pathways
Biological processes and signaling networks where the PDE6H gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDE6H gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of epidermal growth factor receptor signaling pathway
- positive regulation of MAPK cascade
- visual perception
- positive regulation of G-protein coupled receptor protein signaling pathway
Cellular Component
Where in the cell the gene product is active
- photoreceptor outer segment membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- enzyme inhibitor activity
- 3',5'-cyclic-GMP phosphodiesterase activity
- cGMP binding