KCNIP1 Antibody

1. This is the first copy number variation association study of the KCNIP1 gene in Chinese population, and these data indicated that KCNIP1 might function as a type 2 diabetes-susceptibility gene whose dysregulation alters insulin production. PMID: 29491224
2. Study shows that the VAPB-PTPIP51 tethers regulate autophagy and demonstrates that overexpression of VAPB or PTPIP51 to tighten endoplasmic reticulum-mitochondria contacts impairs, whereas small interfering RNA-mediated loss of VAPB or PTPIP51 to loosen contacts stimulates, autophagosome formation. PMID: 28132811
3. the current study provides evidence that genetic variants of Kv accessory proteins may contribute to the susceptibility of Attention-deficit/hyperactivity disorder. PMID: 29176790
4. These studies showed that a common copy number variation in KCNIP1 gene is a genetic predictor of atrial fibrillation risk possibly pointing to a functional pathway. PMID: 26831368
5. KCNIP1 from copy number variations study might function as a type 2 diabetes susceptibility gene whose dysregulation alters insulin production. PMID: 24886904
6. Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis PMID: 24681403
7. V234I-VAPB induces ubiquitin aggregation followed by cell death; proposed that V234I-VAPB exhibits the characteristics of amyotrophic lateral sclerosis in spite of not having the typical aggregation property of different mutations in various neurodegenerative diseases PMID: 24792378
8. our findings suggest that KChIP1 interacts with Kv4.3 in interneurons at the stratum lacunosum-moleculare/radiatum junction PMID: 21129448
9. X-ray crystallographic and small-angle X-ray scattering data that show that the KChIP1-Kv4.3 N-terminal cytoplasmic domain complex is a cross-shaped octamer bearing two principal interaction sites. PMID: 17057713
10. EF-hands 3 and 4 of KChIP1 are functionally involved in a specific association with PS on the membrane PMID: 19550036

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HGNC: 15521

OMIM: 604660

KEGG: hsa:30820

STRING: 9606.ENSP00000395323

UniGene: Hs.484111