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|1ujy, 20 NMR models ()|
|Gene:||KAZUSA ha01154 (Homo sapiens)|
Solution structure of SH3 domain in Rac/Cdc42 guanine nucleotide exchange factor(GEF) 6
[ARHG6_HUMAN] Defects in ARHGEF6 are the cause of mental retardation X-linked type 46 (MRX46) [MIM:300436]. Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
[ARHG6_HUMAN] Acts as a RAC1 guanine nucleotide exchange factor (GEF).
About this Structure
- ↑ Kutsche K, Yntema H, Brandt A, Jantke I, Nothwang HG, Orth U, Boavida MG, David D, Chelly J, Fryns JP, Moraine C, Ropers HH, Hamel BC, van Bokhoven H, Gal A. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet. 2000 Oct;26(2):247-50. PMID:11017088 doi:10.1038/80002