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FLASH GENE
Symbol ARL6 contributors: shn/mct - updated : 15-12-2020
HGNC name ADP-ribosylation factor-like 6
HGNC id 13210
ASSOCIATED DISORDERS
corresponding disease(s) BBS3 , RP55
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       gain of function
is significantly up regulated in cilia-dependent RMS cells and tissues
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • oligonucleotide knockdown in zebrafish results in the cardinal features of BBS in zebrafish, including defects to the ciliated Kupffer's Vesicle and delayed retrograde melanosome transpor
  • Bbs3L-null mouse presents disruption of the normal photoreceptor architecture