GRB10 Interacting GYF Protein 2 (GIGYF2)
TNRC15; PERQ2; PARK11; GYF2; Trinucleotide Repeat Containing 15; PERQ Amino Acid Rich,With GYF Domain 2; Parkinson Disease(Autosomal Recessive,Early Onset)11
GIGYF2 interacts with GRB10 and may be involved in the regulation of tyrosine kinase receptor signaling. This gene contains CAG repeats, and the encoded protein contains stretches glutamine and glutamic acid residues. Defects in this gene are a cause of Parkinson disease type 11 (PARK11). Multiple transcript variants encoding several different isoforms have been found for this gene.
The deduced 1,292-amino acid protein contains a GYF domain in its N-terminal half and a clathrin light chain homology domain in its C-terminal half. It also has a proline-rich region, multiple Q/E stretches, a consensus bipartite nuclear localization signal, several phosphorylation sites, and binding sites for protein phosphatase-1, 14-3-3 proteins, and phospholipase C-gamma.
Organism species: Homo sapiens (Human)
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Organism species: Mus musculus (Mouse)
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