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FLASH GENE

Symbol

OFD1

contributors: mct - updated : 24-05-2015

HGNC name	oral-facial-digital syndrome 1
HGNC id	2567

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ANIMAL & CELL MODELS

	animal model which could represent a valuable tool to shed light on the molecular link between mTOR and cysts development and eventually to the identification of novel drug targets for renal cystic disease
	in autophagy-deficient Atg5 or Atg3 null mouse embryonic fibroblasts, Ofd1 accumulates at centriolar satellites, leading to fewer and shorter primary cilia and a defective recruitment of Bbs4 (Bardet–Biedl syndrome 4) to cilia