GUCA1B
Function
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 Ca(2+)-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).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The N-terminus is blocked.
Tissue Specificity
In the retina, it is expressed in cone and rod photoreceptor cells.
Cellular localization
- Cell membrane
- Lipid-anchor
- Photoreceptor inner segment
- Cell projection
- Cilium
- Photoreceptor outer segment
- Subcellular location is not affected by light or dark conditions.
Alternative names
GCAP2, GUCA1B, Guanylyl cyclase-activating protein 2, GCAP 2, Guanylate cyclase activator 1B