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last update : 02-07-2009
Symbol BBS3
Location 3p11.2
Name Bardet-Biedl syndrome 3
Corresponding gene ARL6
related resource Retinal Information Network
Main clinical features
  • obesity, mental retardation, polydactyly, retinitis pigmentosa, hypogonadism , nephronophtisis and urinary tract malformation (Bedouin kindred)
  • peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS (PMID: 19190184))
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene product
    Name ADP-ribosylation factor-like 6
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function homozygous substitutions
    Remark(s) . mutations alter the guanine nucleotide-binding properties of ARL6, resulting in low expression of the mutant proteins, which can be restored by the inhibition of the proteasome (PMID: 19236846))
  • mutation may cause defects in vesicular transport to the cilium (PMID: 17574030))
  • a homozygous stop mutation segregates completely with the disease in the Bedouin kindred (PMID: 15258860))