GUCY1B1

Chr 4

guanylate cyclase 1 soluble subunit beta 1

Also known as: GC-S-beta-1, GC-SB3, GUC1B3, GUCB3, GUCSB3, GUCY1B3

NCBI Gene: 2983 ENSG00000061918 UniProt: Q02153 OMIM: 139397

The protein is the beta subunit of soluble guanylate cyclase, which catalyzes the conversion of GTP to cGMP and mediates cellular responses to nitric oxide through an HNOX domain that serves as a receptor for nitric oxide, oxygen, and nitrovasodilator drugs. Mutations cause autosomal recessive moyamoya angiopathy with early-onset stroke, typically presenting in childhood with cerebrovascular disease. The gene shows very low constraint against loss-of-function variants (pLI = 0.000026), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.68

LOEUF

GOF

Mechanism· predicted