PLEKHN1
Description
The PLEKHN1 (pleckstrin homology domain containing N1) is a protein-coding gene located on chromosome 1.
PLEKHN1 regulates leptin mRNA stability in conjunction with ELAVL1, both stabilizing and destabilizing it depending on cellular context. It binds to various phospholipids including cardiolipin, phosphatidic acid, phosphatidylinositol 4-phosphate, and phosphatidylserine. PLEKHN1 has been shown to promote apoptosis by enhancing BAX-BAK hetero-oligomerization through interaction with BID in colon cancer cells.
PLEKHN1 is also known as CLPABP.
Associated Diseases
- obesity due to melanocortin 4 receptor deficiency
- obesity due to pro-opiomelanocortin deficiency
- obesity due to leptin receptor gene deficiency
- obesity due to congenital leptin deficiency
- severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- obesity due to prohormone convertase I deficiency
- Bardet-Biedl syndrome
- obesity, hyperphagia, and developmental delay
- obesity due to SIM1 deficiency
- cancer
