VAC14 Antibody

1. The association data demonstrated strong correlations between rs8060947 and VAC14 expression and between rs8060947 and S. Typhi invasion. The direction of effects for the different alleles led to the hypothesis that reducing VAC14 expression would increase S. Typhi invasion. PMID: 28827342
2. A genome-wide association study of a prospectively enrolled patient cohort identified an single nucleotide polymorphism in VAC14 that predicts sensitivity to docetaxel-induced peripheral neuropathy. PMID: 27143689
3. Biallelic rare coding variants in VAC14 was identified in a female neonate with Yunis-Varon syndrome. Cultured patient fibroblasts exhibited a YVS-like vacuolation ameliorated by ML-SA1. PMID: 28635952
4. The similar age of onset and neurological decline in the two unrelated children define a recessive disorder resulting from compound heterozygosity for deleterious variants of VAC14. PMID: 27292112
5. Rab7 GAP TBC1D15 with Vac14. PMID: 24578385
6. a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J. PMID: 20630877
7. the PIKfyve-associated hVac14 protein has a major role in activating PIKfyve and thereby regulating PtdIns(3,5)P(2) synthesis and endomembrane homeostasis in mammalian cells PMID: 15542851
8. describe a novel interaction between the PDZ domain of nitric oxide synthase and Vac14 PMID: 17161399
9. demonstrate a coupling between the machinery for PtdIns(3,5)P2 synthesis and turnover achieved through a physical assembly of PIKfyve, ArPIKfyve, and Sac3. PMID: 17556371
10. The authors data indicate that the PAS complex is organized to provide optimal PIKfyve functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions. PMID: 18950639
11. PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis PMID: 19840946

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HGNC: 25507

OMIM: 604632

KEGG: hsa:55697

STRING: 9606.ENSP00000261776

UniGene: Hs.445061