| 216805 |
Q8QZS3 |
FLCN_MOUSE |
Folliculin (Birt-Hogg-Dube syndrome protein homolog) |
DISRUPTION PHENOTYPE |
Embryonic lethality at 5.5-6.5 dpc, showing defects in the visceral endoderm (PubMed:18974783, PubMed:19850877). Heterozygous knockout mice appear normal at birth but develop kidney cysts and solid tumors as they age, probably caused by activation of the mTOR pathway (PubMed:19850877). Conditional deletion in kidney leads to development of polycystic kidneys and renal neoplasia, caused by activation of the mTOR pathway (PubMed:18182616, PubMed:18974783). Conditional deletion in heart causes cardiac hypertrophy with deregulated energy homeostasis leading to dilated cardiomyopathy: defects are caused by mTORC1 up-regulation (PubMed:24908670). Conditional deletion in adipose tissue leads to browning of white adipose tissue (WAT) caused by deregulation of mTORC1 that relieves cytoplasmic retention of Tfe3, leading to direct induction of the Ppargc1b/PGC-1 transcriptional coactivators, drivers of mitochondrial biogenesis and the browning program (PubMed:27913603). {ECO:0000269|PubMed:18182616, ECO:0000269|PubMed:18974783, ECO:0000269|PubMed:19850877, ECO:0000269|PubMed:24908670, ECO:0000269|PubMed:27913603}. |