| 233979 | Q8BWC0 | TPC2_MOUSE | Two pore channel protein 2 (Two pore calcium channel protein 2) (Voltage-dependent calcium channel protein TPC2) | DISRUPTION PHENOTYPE | Loss of NAADP-mediated calcium release (PubMed:19387438). Mutant mice are highly susceptible to hepatic cholesterol overload, have hyperlipoproteinaemia and liver damage consistent with non-alcoholic fatty liver hepatitis (PubMed:25144390). TPCN1 and TPCN2 double knockouts are viable, fertile, have no obvious morphological abnormalities, and no obvious behavioral defects. After fasting for 3 days, they are less active and endurance performance is reduced by 8.3 fold in contrast to wild-type littermates that show no changes. Two days after re-introduction of food, mutants regain endurance and become as active as before fasting (PubMed:23394946). {ECO:0000269|PubMed:19387438, ECO:0000269|PubMed:23394946, ECO:0000269|PubMed:25144390}. |