[HTML][HTML] The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment
C Hanke-Gogokhia, Z Wu, A Sharif, H Yazigi… - Journal of Biological …, 2017 - ASBMB
Arf-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 …
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 …
