SYT1, synaptotagmin 1, 6857

N. diseases: 460; N. variants: 15
Disease: Adrenal Gland Pheochromocytoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 GeneticVariation disease BEFREE This follows from pHluorin-based imaging of single-vesicle exocytosis in pheochromocytoma (PC12) cells showing that selective disruption of Syt1 oligomerization using a structure-directed mutation (F349A) dramatically increases the normally low levels of constitutive exocytosis to effectively occlude Ca<sup>2+</sup>-stimulated release. 30038018 2018