GUCA1A Chromosome 6
Guanylate cyclase activator 1A
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What This Gene Does
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. provided by RefSeq, Jul 2020]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000048545
Associated Conditions (3)
Cone-rod dystrophy
Cone dystrophy 3
Retinal dystrophy
Key Variants
RS137931613
Conflicting classifications of pathogenicity
Health Risk
RS1768015203
Conflicting classifications of pathogenicity
Health Risk
RS1768035931
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Cone-rod dystrophy
Health Risk
RS2113838890
Conflicting classifications of pathogenicity
Cone dystrophy 3, Cone dystrophy 3
Health Risk
RS1554186463
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1768014561
Likely pathogenic
Cone dystrophy 3, Cone dystrophy 3, Cone dystrophy 3
Health Risk
RS1768016404
Pathogenic
Cone dystrophy 3, Cone dystrophy 3
Health Risk
RS749013749
Pathogenic
Cone dystrophy 3, Retinal dystrophy, Cone dystrophy 3
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137931613 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1768015203 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1768035931 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2113838890 | Health Risk | Conflicting classifications of pathogenicity | Cone dystrophy 3, Cone dystrophy 3 |
| RS1554186463 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1768014561 | Health Risk | Likely pathogenic | Cone dystrophy 3, Cone dystrophy 3, Cone dystrophy 3 |
| RS1768016404 | Health Risk | Pathogenic | Cone dystrophy 3, Cone dystrophy 3 |
| RS749013749 | Health Risk | Pathogenic | Cone dystrophy 3, Retinal dystrophy, Cone dystrophy 3 |