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GUCY2C - guanylate cyclase 2C
- Synonym(s) : heat stable enterotoxin receptor, STAR, STA receptor
- Previous symbols and names : GUC2C, guanylate cyclase 2C (heat stable enterotoxin receptor)
- Type : gene with protein product
- Chromosomal location : 12p12.3
- OMIM: 601330
- HGNC: 4688
- UniProtKB: P25092
- Genatlas: GUCY2C
- GenCC: GUCY2C
- Ensembl: ENSG00000070019
- IUPHAR-DB: 1750
- Reactome: P25092
- LOVD: GUCY2C
Diseases list
- Disease-causing germline mutation(s) in Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
ORPHA:314373 - Disease-causing germline mutation(s) in Congenital sodium diarrhea
ORPHA:103908 - Disease-causing germline mutation(s) in Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
ORPHA:314376

Additional information
Patient-centred resources for this gene
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