PDE6C

Phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Identifiers
Symbols	PDE6C; COD4; PDEA2
External IDs	OMIM: 600827 MGI: 105956 HomoloGene: 4521 GeneCards: PDE6C Gene
EC number	3.1.4.35
Gene Ontology Molecular function • nucleotide binding • phosphoric diester hydrolase activity • hydrolase activity • cGMP binding • metal ion binding • 3',5'-cyclic-GMP phosphodiesterase activity Cellular component • plasma membrane Biological process • signal transduction • visual perception • phototransduction, visible light • response to stimulus Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5146	110855
Ensembl	ENSG00000095464	ENSMUSG00000024992
UniProt	P51160	Q91ZQ1
RefSeq (mRNA)	NM_006204	NM_033614
RefSeq (protein)	NP_006195	NP_291092
Location (UCSC)	Chr 10: 95.37 – 95.43 Mb	Chr 19: 38.21 – 38.26 Mb
PubMed search	[1]	[2]

Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' is an enzyme that in humans is encoded by the PDE6C gene.^[1]

References

1. ^ "Entrez Gene: PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5146. 

Further reading

• Deloukas P, Earthrowl ME, Grafham DV et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054. 
• Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Bertazolli-Filho R, Ghosh S, Huang W et al. (2001). "Molecular evidence that human ocular ciliary epithelium expresses components involved in phototransduction". Biochem. Biophys. Res. Commun. 284 (2): 317–25. doi:10.1006/bbrc.2001.4970. PMID 11394879. 
• Harrington JJ, Sherf B, Rundlett S et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013. 
• Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310948. 
• Gao YQ, Danciger M, Longmuir R et al. (1999). "Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations". Invest. Ophthalmol. Vis. Sci. 40 (8): 1818–22. PMID 10393054. 
• Feshchenko EA, Andreeva SG, Suslova VA et al. (1996). "Human cone-specific cGMP phosphodiesterase alpha' subunit: complete cDNA sequence and gene arrangement". FEBS Lett. 381 (1–2): 149–52. doi:10.1016/0014-5793(96)00104-4. PMID 8641425. 
• Viczian AS, Piriev NI, Farber DB (1996). "Isolation and characterization of a cDNA encoding the alpha' subunit of human cone cGMP-phosphodiesterase". Gene 166 (2): 205–11. doi:10.1016/0378-1119(95)00585-4. PMID 8543163. 
• Piriev NI, Viczian AS, Ye J et al. (1996). "Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24". Genomics 28 (3): 429–35. doi:10.1006/geno.1995.1171. PMID 7490077. 

External links

• GeneReviews/NIH/NCBI/UW entry on Achromatopsia
• OMIM entries on Achromatopsia

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