Aliases for GUCY1A2 Gene
External Ids for GUCY1A2 Gene
Previous HGNC Symbols for GUCY1A2 Gene
Previous GeneCards Identifiers for GUCY1A2 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
GeneCards Summary for GUCY1A2 Gene
GUCY1A2 (Guanylate Cyclase 1 Soluble Subunit Alpha 2) is a Protein Coding gene. Diseases associated with GUCY1A2 include Kabuki Syndrome 1. Among its related pathways are NO-dependent CFTR activation (normal and CF) and Platelet activation, signaling and aggregation. GO annotations related to this gene include GTP binding and phosphorus-oxygen lyase activity. An important paralog of this gene is GUCY1A3.
UniProtKB/Swiss-Prot for GUCY1A2 Gene
Has guanylyl cyclase on binding to the beta-1 subunit.
Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits.
Guanylyl Cyclases (GC) are a group of enzymes that, in the presence of a metal ion co-factor such as Mg2+ or Mn2+, convert guanosine-5'-triphosphate (GTP) into 3',5'-guanosine monophosphate (cGMP) and pyrophosphate. There are two main groups of guanylyl cyclase.