GUCA1B Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Nov 2009]

GCAP2: Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure. Defects in GUCA1B are the cause of retinitis pigmentosa type 48 (RP48). RP48 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.

Protein type: Calcium-binding

Chromosomal Location of Human Ortholog: 6p21.1

Cellular Component: photoreceptor inner segment

Molecular Function: calcium sensitive guanylate cyclase activator activity; calcium ion binding

Biological Process: rhodopsin mediated signaling; phototransduction, visible light; regulation of rhodopsin mediated signaling; visual perception; cell-cell signaling; receptor guanylyl cyclase signaling pathway; positive regulation of guanylate cyclase activity; body fluid secretion

Disease: Retinitis Pigmentosa 48