DOCK3 Antibody

1. here we report a second case of biallelic DOCK3 mutation due to homozygous deletion. Given the clinical similarities among the cases with DOCK3 mutations, we provided further evidence that biallelic mutations of DOCK3 lead to a specific DOCK3-related neurodevelopmental syndrome PMID: 29130632
2. Common features in both affected individuals include severe developmental disability, ataxic gait, and severe hypotonia, which recapitulates the Dock3 knockout mouse phenotype. We show that complete DOCK3 deficiency in humans leads to developmental disability with significant hypotonia and gait ataxia, probably due to abnormal axonal development PMID: 28195318
3. Inhibition of Dock3 by Dock3 shRNA impaired the severity of status epilepticus in the acute stage and decreased the spontaneous recurrent seizures times in the chronic stage of lithium-pilocarpine model and decreased the expression of rac1-GTP. PMID: 26319681
4. Results supported that miR-512-3p could inhibit tumor cell adhesion, migration, and invasion by regulating the RAC1 activity via DOCK3 in NSCLC A549 and H1299 cell lines. PMID: 25687035
5. It plays a role in axonal regeneration. (review) PMID: 22746061
6. MOCA is a key molecule of the Alzheimer disease-relevant neuronal death signals that links the presenilin-mediated death signal with the APP-mediated death signal at a point between Rac1 or Cdc42 and ASK1. PMID: 22115042
7. Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex PMID: 20368433
8. We report that MOCA modulates cell-cell adhesion and morphology by increasing the accumulation of adherens junction proteins. PMID: 15647471
9. MOCA is a novel Wnt negative regulator and demonstrate that this screening approach can be a rapid means for isolation of new Wnt regulators. PMID: 18716063

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HGNC: 2989

OMIM: 603123

KEGG: hsa:1795

STRING: 9606.ENSP00000266037

UniGene: Hs.476284