GUCA1C

Chr 3

guanylate cyclase activator 1C

Also known as: GCAP3

NCBI Gene: 9626 ENSG00000138472 UniProt: O95843 OMIM: 605128

The protein functions as a calcium-sensitive regulator of guanylyl cyclases in rod photoreceptors, stimulating these enzymes at low calcium concentrations and inhibiting them at high calcium concentrations to enable recovery of the dark state following light exposure. Mutations cause autosomal recessive cone-rod dystrophy, a retinal degeneration affecting both cone and rod photoreceptors. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where both copies must be affected to cause disease.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable calcium ion binding activity and calcium sensitive guanylate cyclase activator activity. Predicted to be involved in regulation of signal transduction. Predicted to be located in photoreceptor disc membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.88

LOEUF

Multiple*

Mechanism· predicted