Gene Symbol | GNAI3 |
Entrez Gene ID | 2773 |
Full Name | G protein subunit alpha i3 |
Synonyms | 87U6,ARCND1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]. |
Disorder MIM: | |
Disorder Html: | Auriculocondylar syndrome 1, 602483 (3) |