GUCA1B

The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa.

guanylate cyclase activator 1B (retina)

Stimulates two retinal guanylyl cyclases (GCs) GUCY2D and GUCY2F when free calcium ions concentration is low, and inhibits GUCY2D and GUCY2F when free calcium ions concentration is elevated (By similarity).

This Ca2+-sensitive regulation of GCs is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity).

May be involved in cone photoreceptor response and recovery of response in bright light (By similarity).

Body fluid secretion Source: ProtInc
Cell-cell signaling Source: ProtInc
Receptor guanylyl cyclase signaling pathway Source: ProtInc
Visual perception Source: UniProtKB-KW

Cell membrane; Photoreceptor inner segment; Photoreceptor outer segment. Subcellular location is not affected by light or dark conditions.

Retinitis pigmentosa 48 (RP48):
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.

The N-terminus is blocked.