| UniProt Protein Function: | PDE6C: Defects in PDE6C are the cause of cone dystrophy type 4 (COD4). An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. Belongs to the cyclic nucleotide phosphodiesterase family.Protein type: Phosphodiesterase; EC 3.1.4.35Chromosomal Location of Human Ortholog: 10q24Cellular Component: plasma membraneMolecular Function: 3',5'-cyclic-GMP phosphodiesterase activity; cGMP binding; metal ion bindingBiological Process: metabolic process; phototransduction, visible light; retinal cone cell development; visual perceptionDisease: Cone Dystrophy 4 |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010] |
| UniProt Code: | P51160 |
| NCBI GenInfo Identifier: | 90111861 |
| NCBI Gene ID: | 5146 |
| NCBI Accession: | P51160.2 |
| UniProt Secondary Accession: | P51160,Q5VY29, A6NCR6 |
| UniProt Related Accession: | P51160 |
| Molecular Weight: | 99,147 Da |
| NCBI Full Name: | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' |
| NCBI Synonym Full Names: | phosphodiesterase 6C |
| NCBI Official Symbol: | PDE6CÂ Â |
| NCBI Official Synonym Symbols: | COD4; ACHM5; PDEA2Â Â |
| NCBI Protein Information: | cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' |
| UniProt Protein Name: | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' |
| UniProt Synonym Protein Names: | cGMP phosphodiesterase 6C |
| Protein Family: | cGMP-specific 3',5'-cyclic phosphodiesterase |
| UniProt Gene Name: | PDE6CÂ Â |
| UniProt Entry Name: | PDE6C_HUMAN |
