Recombinant Human PDE6H protein (His tag N-Terminus)

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

PDE6H also known as phosphodiesterase 6H is a protein that plays a significant role in the hydrolysis of cyclic GMP (cGMP) in photoreceptor cells of the eye. It has a molecular mass of approximately 9.5 kDa. This protein gets predominantly expressed in the retina specifically in the cone cells where it assists in visual signal transduction. PDE6H is an essential subunit of the cone photoreceptor phosphodiesterase holoenzyme which is responsible for regulating cGMP levels in response to light stimuli.

Biological function summary

PDE6H serves a critical function in visual perception by modulating the phototransduction cascade in cone cells. The protein is part of a larger complex the cGMP phosphodiesterase enzyme that includes the catalytic subunits PDE6C. This enzyme complex downregulates cGMP levels leading to the closure of cGMP-gated ion channels. As a result the reduction of cation influx causes hyperpolarization of the photoreceptor membrane ultimately contributing to the visual signal transduction process.

Pathways

PDE6H is an important component of the phototransduction pathway which is essential for converting light stimuli into electrical signals in the photoreceptors. This pathway enables visual signal processing required for vision in bright light conditions. PDE6H interacts closely with other proteins in this cascade such as the transducin protein. The balance of cGMP levels maintained by PDE6H regulates the activity of cyclic nucleotide-gated channels important for proper visual function.

PDE6H mutations have been associated with incomplete achromatopsia a condition characterized by the absence of color vision sensitivity to bright light and low visual acuity. This disorder arises from disruptions in the phototransduction process within cone cells. PDE6H's activity also connects to cone dystrophies where progressive degeneration of cone cells affects central vision. Research indicates interactions with PDE6C another related subunit are imperative in maintaining cone photoreceptor function and preventing these visual disorders.