功能This protein participates in processes of transmission and amplification of the visual signal.
疾病相关Defects in PDE6A are the cause of retinitis pigmentosa type 43 (RP43) [MIM:613810]. RP43 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.
序列相似性Belongs to the cyclic nucleotide phosphodiesterase family. Contains 2 GAF domains.
Phosphodiesterase 6A cGMP specific rod alpha antibody
Retinal Rod Photoreceptor cGMP Phosphodiesterase alpha antibody
Rod cGMP specific 3' 5' cyclic phosphodiesterase alpha subunit antibody
Rod cGMP-specific 3'' antibody
Anti-PDE6 alpha antibody 图像
Western blot - PDE6C antibody (ab5660)
Western blot of PDE6C on sheep retinal extracts using ab5660.
Anti-PDE6 alpha antibody (ab5660)参考文献
This product has been referenced in:
Iribarne M et al. Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish. Sci Rep7:45962 (2017).
Read more (PubMed: 28378769) »