SOC
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I'm homozygous for this rare (0.01%) missense mutation -- SNP: rs3730071, gene: ADCY6
According to @Valentijn 's amazing rare allele program it's related to formation of cyclic adenosine monophosphate (whatever that is when it's at home ). As far as I can figure out at the moment (which is not far at all, I'm afraid), it's somehow related to ATP.
According to Wikipedia:
Translation?
According to @Valentijn 's amazing rare allele program it's related to formation of cyclic adenosine monophosphate (whatever that is when it's at home ). As far as I can figure out at the moment (which is not far at all, I'm afraid), it's somehow related to ATP.
According to Wikipedia:
cAMP is a second messenger, used for intracellular signal transduction, such as transferring into cells the effects of hormones like glucagon and adrenaline, which cannot pass through the cell membrane. It is involved in the activation of protein kinases and regulates the effects of adrenaline and glucagon. cAMP also binds to and regulates the function ofion channels such as the HCN channels and a few other cyclic nucleotide-binding proteins such as Epac1 and RAPGEF2.
Translation?