BEX2
Description
The BEX2 (brain expressed X-linked 2) is a protein-coding gene located on chromosome X.
Protein BEX2, also known as brain-expressed X-linked protein 2, is a protein that in humans is encoded by the BEX2 gene.
BEX2, also known as Brain-expressed X-linked protein 2, plays a critical role in regulating mitochondrial apoptosis and the G1 cell cycle in breast cancer cells. It protects these cells from apoptosis by modulating the BCL2 protein family, specifically by upregulating the anti-apoptotic member BCL2 and downregulating the pro-apoptotic members BAD, BAK1, and PUMA. Furthermore, BEX2 is essential for normal cell cycle progression during the G1 phase by controlling the levels of CCND1 and CDKN1A. It also regulates the PP2A regulatory subunit B and PP2A phosphatase activity. In the absence of reductive stress, BEX2 acts as a pseudosubstrate for the CRL2(FEM1B) complex. It binds to FEM1B via zinc, preventing FEM1B from interacting with its substrates.
BEX2 is also known as BEX1, DJ79P11.1.
Associated Diseases
- retinitis pigmentosa
- snowflake vitreoretinal degeneration
- Coats disease
- birdshot chorioretinopathy
- cataract 50 with or without glaucoma
- X-linked retinoschisis
- X-linked retinal dysplasia
- isolated ectopia lentis
- megalocornea
- Wagner disease
- aniridia
- exudative vitreoretinopathy 2, X-linked
- Stickler syndrome type 2
- uncombable hair syndrome
- familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
