York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
T Markello, D Chen, JY Kwan… - Molecular genetics and …, 2015 - Elsevier
Store-operated Ca 2+ entry is the major route of replenishment of intracellular Ca 2+ in
animal cells in response to the depletion of Ca 2+ stores in the endoplasmic reticulum. It is
primarily mediated by the Ca 2+-selective release-activated Ca 2+(CRAC) channel, which
consists of the pore-forming subunits ORAI1–3 and the Ca 2+ sensors, STIM1 and STIM2.
Recessive loss-of-function mutations in STIM1 or ORAI1 result in immune deficiency and
nonprogressive myopathy. Heterozygous gain-of-function mutations in STIM1 cause non …
animal cells in response to the depletion of Ca 2+ stores in the endoplasmic reticulum. It is
primarily mediated by the Ca 2+-selective release-activated Ca 2+(CRAC) channel, which
consists of the pore-forming subunits ORAI1–3 and the Ca 2+ sensors, STIM1 and STIM2.
Recessive loss-of-function mutations in STIM1 or ORAI1 result in immune deficiency and
nonprogressive myopathy. Heterozygous gain-of-function mutations in STIM1 cause non …