Pde6c - phosphodiesterase 6C, cGMP specific, cone, alpha prime Gene
Also Known as cpfl1
Species: Mus musculus
Summary
Predicted to enable 3',5'-cyclic-nucleotide phosphodiesterase activity. Acts upstream of or within phototransduction, visible light; retinal cone cell development; and visual perception. Predicted to be located in plasma membrane. Is expressed in brain and retina. Used to study achromatopsia. Human ortholog(s) of this gene implicated in cone-rod dystrophy. Orthologous to human PDE6C (phosphodiesterase 6C). [provided by Alliance of Genome Resources, Apr 2022]
Pde6c Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001170959.1 | NP_001164430.1 | cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' isoform 2 |
| NM_033614.2 | NP_291092.1 | cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' isoform 1 |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within phototransduction, visible light |
IMP
IMP: Inferred from mutant phenotype
|
16723493 | MGI |
| acts upstream of or within retinal cone cell development |
IMP
IMP: Inferred from mutant phenotype
|
21052544 | MGI |
| acts upstream of or within sensory perception of light stimulus |
IMP
IMP: Inferred from mutant phenotype
|
16723493 | MGI |
| acts upstream of or within visual perception |
IMP
IMP: Inferred from mutant phenotype
|
22937111 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' |
|