PIK3R4 Antibody, FITC conjugated

1. A missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype is identified. Besides being required for trafficking and autophagy, we show that VPS15 regulates primary cilium length in human fibroblasts. PMID: 27882921
2. Both Danon Disease and glycogen storage disease type II show accumulation and altered localization of VPS15 in autophagy-incompetent fibers. However, TFEB displays a different pattern between these two lysosomal storage diseases PMID: 28102838
3. High expression of PI3K core complex genes is associated with poor prognosis in chronic lymphocytic leukemia. PMID: 25840748
4. A specific sub-complex containing VPS15, VPS34, Beclin 1, UVRAG and BIF-1 regulates both receptor degradation and cytokinesis, whereas ATG14L, a PI3K-III subunit involved in autophagy, is not required. PMID: 20643123
5. hVps15, but not Ca2+/CaM, is required for the activity and regulation of hVps34 in mammalian cells PMID: 18957027

Show More

Hide All

HGNC: 8982

OMIM: 602610

KEGG: hsa:30849

STRING: 9606.ENSP00000349205

UniGene: Hs.149032