GUCY1A1 gene

guanylate cyclase 1 soluble subunit alpha 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Moyamoya disease 6 with achalasia

From UniProt:

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. [MIM:615750]

Cytogenetic Location: 4q32.1, which is the long (q) arm of chromosome 4 at position 32.1

Molecular Location: base pairs 155,666,725 to 155,737,059 on chromosome 4 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 4q32.1, which is the long (q) arm of chromosome 4 at position 32.1
  • GC-S-alpha-1
  • GC-SA3
  • GCS-alpha-3
  • GUC1A3
  • GUCA3
  • GUCSA3
  • GUCY1A3
  • MYMY6