PIP5KL1
Description
The PIP5KL1 (phosphatidylinositol-4-phosphate 5-kinase like 1) is a protein-coding gene located on chromosome 9.
PIP5KL1 might act as a scaffold protein, organizing and controlling the activity of type I PI(4)P 5-kinases within specific cellular compartments. This regulation leads to the production of PI(4,5)P2, a crucial molecule involved in processes like actin polymerization, signal transduction, and recruitment of scaffold proteins. Furthermore, PIP5KL1 might facilitate the conversion of PI(4,5)P2 to PI(3,4,5)P3.
PIP5KL1 is also known as PIPKH.
Associated Diseases
- congenital muscular dystrophy with intellectual disability and severe epilepsy
- congenital disorder of glycosylation
- cataract
- cancer
