Gene: PDE6A

Alternate names for this Gene: CGPR-A|PDEA|RP43

Gene Summary: This gene 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. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: phosphodiesterase 6A

Type of Gene: protein-coding

rs7717774 in PDE6A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1456336365 in PDE6A gene and Movement Disorders PMID 26496393 2015 Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

PMID 26321862 2015 Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

rs121918577 in PDE6A gene and RETINITIS PIGMENTOSA 43 PMID 7493036 1995 Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

PMID 10393062 1999 Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

rs139444207 in PDE6A gene and Retinitis Pigmentosa PMID 21151602 2010 Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

PMID 10393062 1999 Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

PMID 25775262 2015 Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

PMID 23134348 2013 Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.