Guanylate cyclase activator 1A (GUCA1A)

The entry "GUCA1ANB-GUCA1A readthrough" represents a naturally occurring readthrough transcript between the neighboring GUCA1ANB (GUCA1A neighbor) and GUCA1A genes on chromosome 6. This transcript encodes the same protein as GUCA1A, not a distinct functional product. GUCA1A encodes guanylate cyclase-activating protein 1 (GCAP1), a neuronal calcium sensor predominantly found in rod and cone photoreceptors. GCAP1 regulates the activity of retinal guanylyl cyclase (RetGC), promoting cGMP synthesis at low calcium concentrations and inhibiting it at high calcium concentrations, thus playing a central role in phototransduction and recovery of visual photoreceptors after light exposure. Pathogenic variants in GUCA1A are associated with inherited retinal degenerations, notably cone dystrophy 3 and cone-rod dystrophy 14. Disease-causing variants typically alter calcium sensitivity or guanylyl cyclase activation, resulting in photoreceptor cell dysfunction and degeneration[2][3][4][5][6]. Note: This specific "GUCA1ANB-GUCA1A" entity is not a distinct protein, but rather a readthrough transcript encoding canonical GUCA1A protein[5]. For all practical, functional, and therapeutic targeting purposes, only GUCA1A (GUCA1A/GCAP1) is the relevant molecule. The readthrough form is not considered a separate therapeutic target, and thus this target name is technically incorrect for structured purposes.

Other names

GCAP1guanylyl cyclase-activating protein 1guanylate cyclase activator 1A (retina)