GUCY1A1

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.

Guanylate Cyclase 1 Soluble Subunit Alpha 1

Blood circulation Source: ProtInc
cGMP biosynthetic process Source: UniProtKB
Nitric oxide mediated signal transduction Source: ProtInc
Positive regulation of nitric oxide mediated signal transduction Source: Ensembl
Regulation of blood pressure Source: Ensembl
Relaxation of vascular associated smooth muscle Source: Ensembl
Retrograde trans-synaptic signaling by nitric oxide, modulating synaptic transmission Source: Ensembl

Cytoplasm

Moyamoya disease 6 with or without achalasia (MYMY6):
A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood.