Gene Symbol | PLEKHG2 |
Entrez Gene ID | 64857 |
Full Name | pleckstrin homology and RhoGEF domain containing G2 |
Synonyms | ARHGEF42,CLG,CTB-60E11.4,LDAMD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]. |
Disorder MIM: | |
Disorder Html: | Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3) |