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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

ASSOCIATED DISORDERS

corresponding disease(s)

OFD1 , JBTS10 , SGBS2 , RP23

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       gain of function loss of BBS4 or OFD1 results in the accumulation of signaling mediators normally targeted for proteasomal degradation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

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