8ghp: Difference between revisions
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[https://www.uniprot.org/uniprot/GUC2C_HUMAN GUC2C_HUMAN] Chronic infantile diarrhea due to guanylate cyclase 2C overactivity;Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency;Congenital sodium diarrhea. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. | [https://www.uniprot.org/uniprot/GUC2C_HUMAN GUC2C_HUMAN] Chronic infantile diarrhea due to guanylate cyclase 2C overactivity;Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency;Congenital sodium diarrhea. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. | ||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/GUC2C_HUMAN GUC2C_HUMAN] Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP (PubMed: | [https://www.uniprot.org/uniprot/GUC2C_HUMAN GUC2C_HUMAN] Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP (PubMed:11950846, PubMed:1718270, PubMed:22436048, PubMed:22521417, PubMed:23269669). Receptor for the E.coli heat-stable enterotoxin; E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GUCY2C (PubMed:1680854, PubMed:1718270). Also activated by the endogenous peptides guanylin and uroguanylin (PubMed:8381596).<ref>PMID:11950846</ref> <ref>PMID:1680854</ref> <ref>PMID:1718270</ref> <ref>PMID:22436048</ref> <ref>PMID:22521417</ref> <ref>PMID:23269669</ref> <ref>PMID:8381596</ref> | ||
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== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||