This product is an active protein and may elicit a biological response in vivo, handle with caution.
5''-cyclic phosphodiesterase subunit beta
Congenital stationary night blindness 3 autosomal dominant
GMP PDE beta
PDE 6 beta
Phosphodiesterase 6B cGMP specific rod beta
Rod cGMP phosphodiesterase beta subunit
Rod cGMP specific 3' 5' cyclic phosphodiesterase beta subunit
Rod cGMP-specific 3''
機能This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.
関連疾患Defects in PDE6B are the cause of retinitis pigmentosa type 40 (RP40) [MIM:613801]. RP40 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in PDE6B are a cause of congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]; also known as congenital stationary night blindness Rambusch type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision.
配列類似性Belongs to the cyclic nucleotide phosphodiesterase family. Contains 2 GAF domains.