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GENATLAS PHENOTYPE |
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 |
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Genetic determination | autosomal recessive |
Function/system disorder | congenital malformation |
eye | |
mental retardation | |
Type | disease |
Gene product |
Name | ADP-ribosylation factor-like 6 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
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| 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))
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