PDE6A

PDE6A
Identifiers
Aliases	PDE6A, CGPR-A, PDEA, RP43, phosphodiesterase 6A
External IDs	OMIM: 180071; MGI: 97524; HomoloGene: 380; GeneCards: PDE6A; OMA:PDE6A - orthologs
EC number	3.1.4.35
Gene location (Human)
Chr.	Chromosome 5 (human)
End	149,944,793 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	61,422,995 bp
RNA expression pattern
	Top expressed in
	corpus epididymis; ; tail of epididymis; ; mucosa of transverse colon; ; mucosa of sigmoid colon; ; rectum; ; right adrenal cortex; ; left testis; ; right testis; ; pituitary gland; ; anterior pituitary;
	Top expressed in
	neural layer of retina; ; retinal pigment epithelium; ; epithelium of lens; ; Ileal epithelium; ; secondary oocyte; ; spermatocyte; ; zygote; ; right kidney; ; outer nuclear layer; ; human kidney;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphoric diester hydrolase activity; 3',5'-cyclic-GMP phosphodiesterase activity; hydrolase activity; 3',5'-cyclic-nucleotide phosphodiesterase activity; metal ion binding;
Cellular component	membrane; plasma membrane; photoreceptor disc membrane;
Biological process	response to stimulus; GMP metabolic process; regulation of cytosolic calcium ion concentration; visual perception; signal transduction; regulation of rhodopsin mediated signaling pathway; G protein-coupled receptor signaling pathway; rhodopsin mediated signaling pathway; retina development in camera-type eye; Wnt signaling pathway, calcium modulating pathway;
	Sources:Amigo / QuickGO
Orthologs
	5145
	225600
	ENSG00000132915
	ENSMUSG00000024575
	P16499
	P27664
	NM_000440
	NM_146086
	NP_000431
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha is an enzyme that in humans is encoded by the PDE6A gene.

PDE6A encodes the cyclic-GMP (cGMP) specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. Mutations in PDE6A have been identified as one cause of autosomal recessive retinitis pigmentosa.