PDE6B

(redirected from CSNBAD2)

PDE6B

A gene on chromosome 5q31.2-q34 that encodes the beta subunit of a herterotrimeric (one alpha, one beta and two gamma subunits) cyclic nucleotide phosphodiesterase, which hydrolyses cGMP to 5'-GMP. Expressed in retinal rods, PDE6B is a key phototransduction enzyme in transmitting and amplifying visual signals.

Molecular pathology
PDE6B mutations are linked to retinitis pigmentosa and autosomal dominant congenital stationary night blindness.