Gene Symbol | ARHGDIA |
Entrez Gene ID | 396 |
Full Name | Rho GDP dissociation inhibitor alpha |
Synonyms | GDIA1,HEL-S-47e,NPHS8,RHOGDI,RHOGDI-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | Nephrotic syndrome, type 8, 615244 (3) |