GTPases

Heterotrimeric G proteins (G proteins) mediate signalling from a superfamily of heptahelical receptors (G-protein-coupled receptors) to a smaller number of effector units that include adenylyl cyclases, phospholipase C and various ion channels.

Types

 small GTPases
 Ras GTPases
 Rho GTPases
 Rab GTPases
 Ral GTPases
 Ran GTPases
 Arf-like GTPases

Function

 cellular signaling
 embryonic development

Pathology (G-protein diseases)

 mutation in ARHGEF10 (8p23) in Slowed nerve-conduction velocities (NCVs). ARHGEF10 encodes a guanine-nucleotide exchange factor (GEF) for the Rho family of GTPase proteins (RhoGTPases) (#12934201#)

References

 Malbon CC. G proteins in development. Nat Rev Mol Cell Biol. 2005 Sep;6(9):689-701. PMID: #16231420#

 Zheng Y. G protein control of microtubule assembly. Annu Rev Cell Dev Biol. 2004;20:867-94. PMID: #15473863#

 Lania A, Mantovani G, Spada A. G protein mutations in endocrine diseases. Eur J Endocrinol. 2001 Nov;145(5):543-59. PMID: #11720871#

 Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med. 1999 Apr 1;340(13):1012-20. PMID: #10099144#