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Molecular Bases of Disease
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- Molecular Bases of DiseaseOpen Access
The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment
Journal of Biological ChemistryVol. 292Issue 52p21442–21456Published online: October 31, 2017- Christin Hanke-Gogokhia
- Zhijian Wu
- Ali Sharif
- Hussein Yazigi
- Jeanne M. Frederick
- Wolfgang Baehr
Cited in Scopus: 21Arf-like protein 13b (ARL13b) is a small GTPase that functions as a guanosine nucleotide exchange factor (GEF) for ARL3-GDP. ARL13b is located exclusively in photoreceptor outer segments (OS) presumably anchored to discs by palmitoylation, whereas ARL3 is an inner segment cytoplasmic protein. Hypomorphic mutations affecting the ARL13b G-domain inactivate GEF activity and lead to Joubert syndrome (JS) in humans. However, the molecular mechanisms in ARL13b mutation–induced Joubert syndrome, particularly the function of primary cilia, are still incompletely understood.