ARHGEF9 Antibody

1. Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene. PMID: 27238888
2. Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism. PMID: 25898924
3. Impairment of the membrane lipid binding activity of Collybistin R290H and a consequent defect in inhibitory synapse maturation represent a likely molecular pathomechanism of epilepsy and mental retardation in humans. PMID: 25678704
4. Data indicate that ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy. PMID: 21633362
5. These results reveal that G(s) and G(q) signalings regulate hPEM-2 functions through PKA and c-Src in Neuro-2a neuroblastoma cells, respectively. PMID: 22033413
6. major regulator of GABAergic postsynaptic gephyrin clustering PMID: 21807943
7. Here we identified residues critical for interaction with gephyrin in the linker region between the SH3 and the DH domains of collybistin. PMID: 11727829
8. translocates gephyrin to submembrane microaggregates; collybistin mutation (G55A)is found in exon 2 of the ARHGEF9 gene in a patient with clinical symptoms of both hyperekplexia and epilepsy PMID: 15215304
9. Results show that hPEM-2 is a target protein of Smurf1. PMID: 18208356

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HGNC: 14561

OMIM: 300429

KEGG: hsa:23229

STRING: 9606.ENSP00000253401

UniGene: Hs.54697