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GTPases

HP:4986

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