PDE6G Antibody

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

Function: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.

Catalytic activity: Guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate.

Subunit structure: Oligomer composed of two catalytic chains (alpha and beta), an inhibitory chain (gamma) and the delta chain.

Involvement in disease: Retinitis pigmentosa 57 (RP57) [MIM:613582]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities: Belongs to the rod/cone cGMP-PDE gamma subunit family.

Sequence caution: The sequence CAD97656.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence EAW89666.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.