ARHGAP29 Antibody

1. Risk haplotypes affect ARHGAP29 expression causing non-syndromic orofacial clefting. PMID: 28287101
2. The variant in question segregates as an autosomal dominant trait caused by an heterozygous missense variant in ARHGAP29 (p.Ser552Pro) that had not previously been identified in a population genomic databases. The p.Ser552Pro ARHGAP29 variant was not present in genomic databases and was predicted to be pathogenic by multiple in silico programs. PMID: 28029220
3. YAP promotes the expression of ARHGAP29 to suppress the RhoA-LIMK-cofilin pathway, destabilizing F-actin. PMID: 28538170
4. The of loss-of-function and ARHGAP29 missense variants in the etiology of oral clefts PMID: 27350171
5. Data indicate that through GTPase-activating proteins ArhGAP29 complex formation Rap1 GTP-binding protein spatially restricts Rho-mediated signaling, which is necessary for endothelial barrier potentiation. PMID: 25963656
6. Genetic variants in ARHGAP29 contribute to the development of nonsyndromic cleft lip with cleft palate. PMID: 25163644
7. We identified genetic variants in TGFB3 and ARHGAP29 associated with suboptimal healing outcome. PMID: 24635173
8. Rasip1-ArhGAP29 pathway also functions in Rap1-mediated regulation of endothelial junctions, which controls endothelial barrier function PMID: 23798437
9. ARHGAP29 is the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. PMID: 23008150
10. PARG1 expression was substantially reduced & it displayed at least partial promoter methylation in all investigated mantle-cell lines & in 31 primary cases. PARG1 is a strong candidate tumor suppressor gene in MCL. PMID: 17488656

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HGNC: 30207

OMIM: 610496

KEGG: hsa:9411

STRING: 9606.ENSP00000260526

UniGene: Hs.483238