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

Gene: MFFP2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs146591309 in PDE6A;MFFP2 gene and Retinitis Pigmentosa PMID 17110911 2006 Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.