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GUCA1A

This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. Alternative splicing results in multiple transcript variants.
GUCA1A
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Rod photoreceptor cells, Cone photoreceptor cells, Late spermatids, Muller glia cells)

Immune cell specificity

Immune cell enriched (plasmacytoid DC)

Cell line specificity

Group enriched (NTERA-2, SH-SY5Y)

Interaction

Homodimer.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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