GUCY1A1 Chromosome 4
Guanylate cyclase 1 soluble subunit alpha 1
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What This Gene Does
Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Soluble guanylate cyclases
Locus Type
gene with protein product
Location
4q32.1
Ensembl
ENSG00000164116
Associated Conditions (6)
Moyamoya disease with early-onset achalasia
Moyamoya disease 1
See cases
Myocardial infarction
susceptibility to
1
Key Variants
RS138687424
Conflicting classifications of pathogenicity
Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
Health Risk
RS781020381
Conflicting classifications of pathogenicity
Moyamoya disease with early-onset achalasia, Moyamoya disease 1, See cases
Health Risk
RS919487431
Likely pathogenic
Health Risk
RS1347958848
Pathogenic
Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
Health Risk
RS1368733883
Pathogenic
Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
Health Risk
RS373182378
Pathogenic
Moyamoya disease with early-onset achalasia, Moyamoya disease 1, Moyamoya disease with early-onset achalasia
Health Risk
RS587777321
Pathogenic
Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
Health Risk
RS587777322
Pathogenic
Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
Health Risk
RS587777928
Pathogenic
Myocardial infarction, susceptibility to, 1
Health Risk
RS751701114
Pathogenic
Moyamoya disease with early-onset achalasia, Moyamoya disease 1, Moyamoya disease with early-onset achalasia
Health Risk
RS587777320
Pathogenic/Likely pathogenic
Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138687424 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia |
| RS781020381 | Health Risk | Conflicting classifications of pathogenicity | Moyamoya disease with early-onset achalasia, Moyamoya disease 1, See cases |
| RS919487431 | Health Risk | Likely pathogenic | — |
| RS1347958848 | Health Risk | Pathogenic | Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia |
| RS1368733883 | Health Risk | Pathogenic | Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia |
| RS373182378 | Health Risk | Pathogenic | Moyamoya disease with early-onset achalasia, Moyamoya disease 1, Moyamoya disease with early-onset achalasia |
| RS587777321 | Health Risk | Pathogenic | Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia |
| RS587777322 | Health Risk | Pathogenic | Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia |
| RS587777928 | Health Risk | Pathogenic | Myocardial infarction, susceptibility to, 1 |
| RS751701114 | Health Risk | Pathogenic | Moyamoya disease with early-onset achalasia, Moyamoya disease 1, Moyamoya disease with early-onset achalasia |
| RS587777320 | Health Risk | Pathogenic/Likely pathogenic | Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia, Moyamoya disease with early-onset achalasia |