PDE6A
Description
The PDE6A (phosphodiesterase 6A) is a protein-coding gene located on chromosome 5.
PDE6A gene encodes the alpha subunit of cyclic GMP (cGMP) specific phosphodiesterase 6A, crucial for retinal rod outer segment function. This enzyme forms a heterotrimer with beta and two gamma subunits, regulating cGMP concentration, which in turn controls rod cell membrane current. Mutations in PDE6A can lead to autosomal recessive retinitis pigmentosa.
PDE6A, also known as rod-specific cGMP phosphodiesterase, plays a crucial role in visual signal transmission and amplification by catalyzing the hydrolysis of 3',5'-cyclic GMP.
PDE6A is also known as CGPR-A, PDEA, RP43.
