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RHEB2

MIM.601293 7q36

Rheb GTPases (RHEBs) represent a unique family of the Ras superfamily of G-proteins.

RHEB2 is a candidate gene for holoprosencephaly type 3 (MIM.142945) or for sacral agenesis (MIM.176450), which map to his region 7q36.

References

- Bai, X.; Ma, D.; Liu, A.; Shen, X.; Wang, Q. J.; Liu, Y.; Jiang, Y. : Rheb activates mTOR by antagonizing its endogenous inhibitor, FKBP38. Science 318: 977-980, 2007. PubMed ID : 17991864

- Hsu, Y.-C.; Chern, J. J.; Cai, Y.; Liu, M.; Choi, K.-W. : Drosophila TCTP is essential for growth and proliferation through regulation of dRheb GTPase. Nature 445: 785-788, 2007. PubMed ID : 17301792

- Fingar DC, Blenis J. Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression. Oncogene. 2004 Apr 19;23(18):3151-71. PMID: 15094765

- Mizuki, N.; Kimura, M.; Ohno, S.; Miyata, S.; Sato, M.; Ando, H.; Ishihara, M.; Goto, K.; Watanabe, S.; Yamazaki, M.; Ono, A.; Taguchi, S.; Okumura, K.; Nogami, M.; Taguchi, H.; Ando, A.; Inoko, H. : Isolation of cDNA and genomic clones of a human Ras-related GTP-binding protein gene and its chromosomal localization to the long arm of chromosome 7, 7q36. Genomics 34: 114-118, 1996. PubMed ID : 8661031

- Stocker, H.; Radimerski, T.; Schindelholz, B.; Wittwer, F.; Belawat, P.; Daram, P.; Breuer, S.; Thomas, G.; Hafen, E. : Rheb is an essential regulator of S6K in controlling cell growth in Drosophila. Nature Cell Biol. 5: 559-565, 2003. PubMed ID : 12766775

- Zhang, Y.; Gao, X.; Saucedo, L. J.; Ru, B.; Edgar, B. A.; Pan, D. : Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins. Nature Cell Biol. 5: 578-581, 2003. PubMed ID : 12771962

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