Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol OFD1 contributors: mct - updated : 24-05-2015
HGNC name oral-facial-digital syndrome 1
HGNC id 2567
ASSOCIATED DISORDERS
corresponding disease(s) OFD1 , JBTS10 , SGBS2 , RP23
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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