BEX4
Description
The BEX4 (brain expressed X-linked 4) is a protein-coding gene located on chromosome X.
BEX4 (Brain expressed, X-linked 4) is a protein encoded by the BEX4 gene in humans. It belongs to the brain expressed X-linked gene family, whose members function as transcription elongation factors that enable RNA polymerase II to bypass pausing during elongation. The BEX4 gene produces multiple alternatively spliced variants that all code for the same protein.
BEX4 may play a role in microtubule deacetylation by negatively regulating the SIRT2 deacetylase activity towards alpha-tubulin, contributing to cell cycle progression and genomic stability. Under conditions without reductive stress, BEX4 functions as a pseudosubstrate for the CRL2(FEM1B) complex, binding to FEM1B through zinc and preventing the interaction of FEM1B with its substrates.
BEX4 is also known as BEXL1.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin D disease
- alpha thalassemia-intellectual disability syndrome type 1
- delta-beta-thalassemia
- dominant beta-thalassemia
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- neutrophil immunodeficiency syndrome
- Heinz body anemia
- hemoglobin E disease
- hemoglobin H disease
- monosomy 7 myelodysplasia and leukemia syndrome 1
